共 35 条
[1]
CRTAP Mutation in a Patient With Cole-Carpenter Syndrome
[J].
Balasubramanian, Meena
;
Pollitt, Rebecca C.
;
Chandler, Kate E.
;
Mughal, M. Z.
;
Parker, Michael J.
;
Dalton, Ann
;
Arundel, Paul
;
Offiah, Amaka C.
;
Bishop, Nicholas J.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2015, 167 (03)
:587-591

Balasubramanian, Meena
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Pollitt, Rebecca C.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Chandler, Kate E.
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Mughal, M. Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester, Lancs, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Parker, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Dalton, Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Arundel, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2TN, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Offiah, Amaka C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2TN, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Bishop, Nicholas J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2TN, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
[2]
CRTAP and LEPRE1 Mutations in Recessive Osteogenesis Imperfecta
[J].
Baldridge, Dustin
;
Schwarze, Ulrike
;
Morello, Roy
;
Lennington, Jennifer
;
Bertin, Terry K.
;
Pace, James M.
;
Pepin, Melanie G.
;
Weis, MaryAnn
;
Eyre, David R.
;
Walsh, Jennifer
;
Lambert, Deborah
;
Green, Andrew
;
Robinson, Haynes
;
Michelson, Melonie
;
Houge, Gunnar
;
Lindman, Carl
;
Martin, Judith
;
Ward, Jewell
;
Lemyre, Emmanuelle
;
Mitchell, John J.
;
Krakow, Deborah
;
Rimoin, David L.
;
Cohn, Daniel H.
;
Byers, Peter H.
;
Lee, Brendan
.
HUMAN MUTATION,
2008, 29 (12)
:1435-1442

Baldridge, Dustin
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Schwarze, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Morello, Roy
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lennington, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bertin, Terry K.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Pace, James M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Pepin, Melanie G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Weis, MaryAnn
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Eyre, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Walsh, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lambert, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland
Childrens Univ Hosp, Dublin, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Green, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland
Univ Coll Dublin, Sch Med & Med Sci, Dublin 2, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Robinson, Haynes
论文数: 0 引用数: 0
h-index: 0
机构:
Akron Childrens Hosp, Genet Ctr, Akron, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Michelson, Melonie
论文数: 0 引用数: 0
h-index: 0
机构:
Akron Childrens Hosp, Genet Ctr, Akron, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Houge, Gunnar
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lindman, Carl
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Pediat, Kristiansund Sykehus, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Martin, Judith
论文数: 0 引用数: 0
h-index: 0
机构:
Inland NW Genet Clin, Spokane, WA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Ward, Jewell
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Div Med Genet, Memphis, TN USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lemyre, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Dept Pediat, CHU Ste Justine, Serv Genet Med, Montreal, PQ, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Mitchell, John J.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Div Med Genet, Montreal, PQ, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Rimoin, David L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Cohn, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA
Univ Washington, Dept Med, Seattle, WA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lee, Brendan
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[3]
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta
[J].
Barbirato, C.
;
Trancozo, M.
;
Almeida, M. G.
;
Almeida, L. S.
;
Santos, T. O.
;
Duarte, J. C. G.
;
Rebouas, M. R. G. O.
;
Sipolatti, V.
;
Nunes, V. R. R.
;
Paula, F.
.
GENETICS AND MOLECULAR RESEARCH,
2015, 14 (04)
:15848-15858

Barbirato, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
Univ Fed Espirito Santo, Ctr Ciencias Saude, Programa Posgrad Biotecnol, Rede Nordeste Biotecnol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Trancozo, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
Univ Fed Espirito Santo, Ctr Ciencias Saude, Programa Posgrad Biotecnol, Rede Nordeste Biotecnol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Almeida, M. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
Univ Fed Espirito Santo, Ctr Ciencias Saude, Programa Posgrad Biotecnol, Rede Nordeste Biotecnol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Almeida, L. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
Univ Fed Espirito Santo, Ctr Ciencias Saude, Programa Posgrad Biotecnol, Rede Nordeste Biotecnol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Santos, T. O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Duarte, J. C. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Rebouas, M. R. G. O.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Nossa Senhora de Gloria, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Sipolatti, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Nossa Senhora de Gloria, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Nunes, V. R. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Nossa Senhora de Gloria, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil

Paula, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
Univ Fed Espirito Santo, Ctr Ciencias Saude, Programa Posgrad Biotecnol, Rede Nordeste Biotecnol, Vitoria, ES, Brazil Univ Fed Espirito Santo, Ctr Ciencias Humanas & Nat, Dept Ciencias Biol, Nucleo Genet Humana & Mol, Vitoria, ES, Brazil
[4]
Brief report: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
[J].
Barnes, Aileen M.
;
Cliang, Weizhong
;
Morello, Roy
;
Cabral, Wayne A.
;
Weis, MaryAnn
;
Eyre, David R.
;
Leikin, Sergey
;
Makareeva, Elena
;
Kuznetsova, Natalia
;
Uveges, Thomas E.
;
Ashok, Aarthi
;
Flor, Armando W.
;
Mulvihill, John J.
;
Wilson, Patrick L.
;
Sundaram, Usha T.
;
Lee, Brendan
;
Marini, Joan C.
.
NEW ENGLAND JOURNAL OF MEDICINE,
2006, 355 (26)
:2757-2764

Barnes, Aileen M.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Cliang, Weizhong
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Morello, Roy
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Cabral, Wayne A.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Weis, MaryAnn
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Eyre, David R.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Leikin, Sergey
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Makareeva, Elena
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Kuznetsova, Natalia
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Uveges, Thomas E.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Ashok, Aarthi
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Flor, Armando W.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Mulvihill, John J.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Wilson, Patrick L.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Sundaram, Usha T.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Lee, Brendan
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA

Marini, Joan C.
论文数: 0 引用数: 0
h-index: 0
机构: NICHHD, NIH, Bethesda, MD 20892 USA
[5]
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
[J].
Besio, Roberta
;
Garibaldi, Nadia
;
Leoni, Laura
;
Cipolla, Lina
;
Sabbioneda, Simone
;
Biggiogera, Marco
;
Mottes, Monica
;
Aglan, Mona
;
Otaify, Ghada A.
;
Temtamy, Samia A.
;
Rossi, Antonio
;
Forlino, Antonella
.
DISEASE MODELS & MECHANISMS,
2019, 12 (06)

Besio, Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

论文数: 引用数:
h-index:
机构:

Leoni, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

Cipolla, Lina
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Ist Genet Mol, I-27100 Pavia, Italy Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

Sabbioneda, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Ist Genet Mol, I-27100 Pavia, Italy Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

论文数: 引用数:
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Aglan, Mona
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo 12622, Egypt Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

Otaify, Ghada A.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo 12622, Egypt Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

Temtamy, Samia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo 12622, Egypt Univ Pavia, Biochem Unit, Dept Mol Med, I-27100 Pavia, Italy

论文数: 引用数:
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论文数: 引用数:
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[6]
Osteogenesis Imperfecta: Current and Prospective Therapies
[J].
Botor, Malwina
;
Fus-Kujawa, Agnieszka
;
Uroczynska, Marta
;
Stepien, Karolina L.
;
Galicka, Anna
;
Gawron, Katarzyna
;
Sieron, Aleksander L.
.
BIOMOLECULES,
2021, 11 (10)

Botor, Malwina
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Fus-Kujawa, Agnieszka
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Uroczynska, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Stepien, Karolina L.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Galicka, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Bialystok, Dept Med Chem, Mickiewicza 2A, PL-15222 Bialystok, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Gawron, Katarzyna
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland

Sieron, Aleksander L.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland Med Univ Silesia, Fac Med Sci Katowice, Dept Mol Biol & Genet, Medykow 18, PL-40752 Katowice, Poland
[7]
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
[J].
Caparros-Martin, Jose A.
;
Aglan, Mona S.
;
Temtamy, Samia
;
Otaify, Ghada A.
;
Valencia, Maria
;
Nevado, Julian
;
Vallespin, Elena
;
Del Pozo, Angela
;
Prior de Castro, Carmen
;
Calatrava-Ferreras, Lucia
;
Gutierrez, Pilar
;
Bueno, Ana M.
;
Sagastizabal, Belen
;
Guillen-Navarro, Encarna
;
Ballesta-Martinez, Maria
;
Gonzalez, Vanesa
;
Basaran, Sarenur Y.
;
Buyukoglan, Ruksan
;
Sarikepe, Bilge
;
Espinoza-Valdez, Cecilia
;
Cammarata-Scalisi, Francisco
;
Martinez-Glez, Victor
;
Heath, Karen E.
;
Lapunzina, Pablo
;
Ruiz-Perez, Victor L.
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2017, 5 (01)
:28-39

Caparros-Martin, Jose A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain
CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Aglan, Mona S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Ctr Excellence Human Genet, Cairo, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Temtamy, Samia
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Ctr Excellence Human Genet, Cairo, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Otaify, Ghada A.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Ctr Excellence Human Genet, Cairo, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Valencia, Maria
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Nevado, Julian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, Hosp Univ Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Vallespin, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, Hosp Univ Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Del Pozo, Angela
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Prior de Castro, Carmen
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Calatrava-Ferreras, Lucia
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Gutierrez, Pilar
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Getafe, Dept Orthoped Surg, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Bueno, Ana M.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Getafe, Dept Orthoped Surg, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Sagastizabal, Belen
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Guillen-Navarro, Encarna
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Getafe, Dept Endocrinol, Madrid, Spain
Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit UMDE, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Ballesta-Martinez, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Getafe, Dept Endocrinol, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Gonzalez, Vanesa
论文数: 0 引用数: 0
h-index: 0
机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Basaran, Sarenur Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Virgen Arrixaca, Serv Pediat, Unidad Genet Med, Murcia, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Buyukoglan, Ruksan
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Medeniyet Univ, Dept Med Genet, Fac Med, Istanbul, Turkey Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Sarikepe, Bilge
论文数: 0 引用数: 0
h-index: 0
机构:
Erciyes Univ, Dept Genet, Fac Med, Kayseri, Turkey Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Espinoza-Valdez, Cecilia
论文数: 0 引用数: 0
h-index: 0
机构:
Pamukkale Univ, Sch Med, Dept Genet, Denizli, Turkey Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Cammarata-Scalisi, Francisco
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Catolico, Cuenca, Ecuador Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Martinez-Glez, Victor
论文数: 0 引用数: 0
h-index: 0
机构:
CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Heath, Karen E.
论文数: 0 引用数: 0
h-index: 0
机构:
CIBER Enfermedades Raras CIBERER, Madrid, Spain
Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, Hosp Univ Paz IdiPaz, Madrid, Spain
Univ Los Andes, Dept Pediat, Unidad Genet Med, Merida, Venezuela Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Lapunzina, Pablo
论文数: 0 引用数: 0
h-index: 0
机构:
CIBER Enfermedades Raras CIBERER, Madrid, Spain
Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, Hosp Univ Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain

Ruiz-Perez, Victor L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Arturo Duperier 4, E-28029 Madrid, Spain
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Clinical and Molecular Analysis in Families With Autosomal Recessive Osteogenesis Imperfecta Identifies Mutations in Five Genes and Suggests Genotype-Phenotype Correlations
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Amr, Khalda
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2013, 161A (06)
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Caparros-Martin, Jose A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Valencia, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Pulido, Veronica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Martinez-Glez, Victor
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Rueda-Arenas, Inmaculada
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Amr, Khalda
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h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Cairo 12311, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Farra, Chantal
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h-index: 0
机构:
Amer Univ Beirut, Med Ctr, Dept Pathol & Lab Med, Beirut, Lebanon Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Lapunzina, Pablo
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Ruiz-Perez, Victor L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Temtamy, Samia
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Cairo 12311, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain

Aglan, Mona
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Cairo 12311, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain
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Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
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Chang, Weizhong
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h-index: 0
机构:
NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Barnes, Aileen M.
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h-index: 0
机构:
NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Cabral, Wayne A.
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h-index: 0
机构:
NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Bodurtha, Joann N.
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h-index: 0
机构:
Virginia Commonwealth Univ, Dept Human & Mol Genet, Richmond, VA USA NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA

Marini, Joan C.
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h-index: 0
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NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA NICHD, Bone & Extracellular Matrix Branch, NIH, Bethesda, MD 20892 USA
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Essawi, Osama
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h-index: 0
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Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Symoens, Sofie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Fannana, Maha
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h-index: 0
机构:
Dr Al Rantisi Specialized Children Hosp, Gaza, Palestine Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Darwish, Mohammad
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h-index: 0
机构:
Rafidia Surg Hosp, Nablus, Palestine Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Farraj, Mohammad
论文数: 0 引用数: 0
h-index: 0
机构:
Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

论文数: 引用数:
h-index:
机构:

Essawi, Tamer
论文数: 0 引用数: 0
h-index: 0
机构:
Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Callewaert, Bert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

De Paepe, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Malfait, Fransiska
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine

Coucke, Paul J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Birzeit Univ, Dept Master Program Clin Lab Sci, Birzeit, Palestine