共 23 条
[1]
Fitzsimmons Syndrome: Spastic Paraplegia, Brachydactyly, and Cognitive Impairment
[J].
Armour, Christine M.
;
Humphreys, Peter
;
Hennekam, Raoul C. M.
;
Boycott, Kym M.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2009, 149A (10)
:2254-2257

Armour, Christine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

Humphreys, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Div Neurol, Dept Pediat, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

Hennekam, Raoul C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Great Ormond St Hosp Children, Inst Child Hlth, London, England
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada
[2]
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
[J].
Bacchelli, Elena
;
Ceroni, Fabiola
;
Pinto, Dalila
;
Lomartire, Silvia
;
Giannandrea, Maila
;
D'Adamo, Patrizia
;
Bonora, Elena
;
Parchi, Piero
;
Tancredi, Raffaella
;
Battaglia, Agatino
;
Maestrini, Elena
.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS,
2014, 6

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Ceroni, Fabiola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Pinto, Dalila
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Lomartire, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Giannandrea, Maila
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Sci San Raffaele, Div Neurosci, Dulbecco Telethon Inst, I-20132 Milan, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

D'Adamo, Patrizia
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Sci San Raffaele, Div Neurosci, Dulbecco Telethon Inst, I-20132 Milan, Italy
Univ Vita Salute San Raffaele, I-20132 Milan, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Bonora, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, S Orsola Malpighi Hosp, Dept Med & Surg Sci, Unit Med Genet, I-40138 Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Parchi, Piero
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Inst Neurol Sci, I-40139 Bologna, Italy
Univ Bologna, Dept Biomed & Neuromotor Sci, I-40139 Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Tancredi, Raffaella
论文数: 0 引用数: 0
h-index: 0
机构:
Stella Maris Clin Res Inst Child & Adolescent Neu, I-56128 Pisa, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

Battaglia, Agatino
论文数: 0 引用数: 0
h-index: 0
机构:
Stella Maris Clin Res Inst Child & Adolescent Neu, I-56128 Pisa, Italy Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy

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[3]
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
[J].
Beaulieu, Chandree L.
;
Majewski, Jacek
;
Schwartzentruber, Jeremy
;
Samuels, Mark E.
;
Femandez, Bridget A.
;
Bernier, Francois P.
;
Brudno, Michael
;
Knoppers, Bartha
;
Marcadier, Janet
;
Dyment, David
;
Adam, Shelin
;
Bulman, Dennis E.
;
Jones, Steve J. M.
;
Avard, Denise
;
Minh Thu Nguyen
;
Rousseau, Francois
;
Marshall, Christian
;
Wintle, Richard F.
;
Shen, Yaoqing
;
Scherer, Stephen W.
;
Friedman, Jan M.
;
Michaud, Jacques L.
;
Boycott, Kym M.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2014, 94 (06)
:809-817

Beaulieu, Chandree L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Majewski, Jacek
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ H3A 1B1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

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Samuels, Mark E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Dept Med, Ctr Hosp Univ St Justine, Ctr Rech, Montreal, PQ H3T 1C5, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Femandez, Bridget A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mem Univ Newfoundland, Fac Med, Discipline Genet, St John, NF A1B 3V6, Canada
Mem Univ Newfoundland, Fac Med, Discipline Med, St John, NF A1B 3V6, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Bernier, Francois P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calgary, Dept Med Genet, Calgary, AB T2N 4N1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Brudno, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Dept Comp Sci, Donnelly Ctr, Toronto, ON M5S 3G4, Canada
Univ Toronto, Banting & Best Dept Med Res, Toronto, ON M5S 3G4, Canada
Hosp Sick Children, Ctr Computat Med, Toronto, ON M5S 3G4, Canada
Hosp Sick Children, Ctr Appl Genom & Genet & Genome Biol, Toronto, ON M5G 0A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

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Marcadier, Janet
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Dyment, David
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Adam, Shelin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Bulman, Dennis E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Jones, Steve J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
British Columbia Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z4S6, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Avard, Denise
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal, PQ H3A 1A4, Canada
Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Minh Thu Nguyen
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal, PQ H3A 1A4, Canada
Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Rousseau, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Laval, Dept Mol Biol Med Biochem & Pathol, Ctr Hosp Univ Quebec, Ctr Rech, Quebec City, PQ G1L 3L5, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Marshall, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Ctr Appl Genom & Genet & Genome Biol, Toronto, ON M5G 0A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Wintle, Richard F.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Ctr Appl Genom & Genet & Genome Biol, Toronto, ON M5G 0A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Shen, Yaoqing
论文数: 0 引用数: 0
h-index: 0
机构:
British Columbia Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z4S6, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Scherer, Stephen W.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Ctr Appl Genom & Genet & Genome Biol, Toronto, ON M5G 0A4, Canada
Univ Toronto, McLaughlin Ctr, Toronto, ON M5G 0A4, Canada
Univ Toronto, Dept Mol Genet, Toronto, ON M5G 0A4, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Friedman, Jan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Dept Med, Ctr Hosp Univ St Justine, Ctr Rech, Montreal, PQ H3T 1C5, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada
[4]
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
[J].
Boycott, Kym M.
;
Vanstone, Megan R.
;
Bulman, Dennis E.
;
MacKenzie, Alex E.
.
NATURE REVIEWS GENETICS,
2013, 14 (10)
:681-691

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

Vanstone, Megan R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

Bulman, Dennis E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

MacKenzie, Alex E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada
[5]
Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
[J].
Butler, Merlin G.
;
Rafi, Syed K.
;
Hossain, Waheeda
;
Stephan, Dietrich A.
;
Manzardo, Ann M.
.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
2015, 16 (01)
:1312-1335

Butler, Merlin G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA

Rafi, Syed K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA

Hossain, Waheeda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA

Stephan, Dietrich A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA 15260 USA Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA

Manzardo, Ann M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, Kansas City, KS 66160 USA
[6]
Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2
[J].
Dathe, Katarina
;
Kjaer, Klaus W.
;
Brehm, Anja
;
Meinecke, Peter
;
Nuernberg, Peter
;
Neto, Jordao C.
;
Brunoni, Decio
;
Tommerup, Nils
;
Ott, Claus E.
;
Klopocki, Eva
;
Seemann, Petra
;
Mundlos, Stefan
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2009, 84 (04)
:483-492

Dathe, Katarina
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Kjaer, Klaus W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Inst Cellular & Mol Med, Wilhelm Johannsen Ctr Funct Genome Res, DK-2200 Copenhagen, Denmark Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Brehm, Anja
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany
Max Planck Inst Mol Genet, D-14195 Berlin, Germany
Free Univ Berlin, Inst Biochem, D-14195 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Meinecke, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Altonaer Kinderkrankenhaus, Abt Med Genet, D-22763 Hamburg, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Nuernberg, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Genet, D-50674 Cologne, Germany
Univ Cologne, Cologne Ctr Genom, D-50674 Cologne, Germany
Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Neto, Jordao C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Ctr Genet Med, BR-04023062 Sao Paulo, Brazil Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Brunoni, Decio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Ctr Genet Med, BR-04023062 Sao Paulo, Brazil Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Tommerup, Nils
论文数: 0 引用数: 0
h-index: 0
机构: Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Ott, Claus E.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Klopocki, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Seemann, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Mol Genet, D-14195 Berlin, Germany
Berlin Brandenburg Ctr Regenerat Therapies BCRT, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

Mundlos, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany
Berlin Brandenburg Ctr Regenerat Therapies BCRT, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany
[7]
SPASTIC PARAPLEGIA ASSOCIATED WITH BRACHYDACTYLY AND CONE SHAPED EPIPHYSES
[J].
FITZSIMMONS, JS
;
GUILBERT, PR
.
JOURNAL OF MEDICAL GENETICS,
1987, 24 (11)
:702-705

FITZSIMMONS, JS
论文数: 0 引用数: 0
h-index: 0

GUILBERT, PR
论文数: 0 引用数: 0
h-index: 0
[8]
A specific mutation in TBL1XR1 causes Pierpont syndrome
[J].
Heinen, Charlotte A.
;
Jongejan, Aldo
;
Watson, Peter J.
;
Redeker, Bert
;
Boelen, Anita
;
Boudzovitch-Surovtseva, Olga
;
Forzano, Francesca
;
Hordijk, Roel
;
Kelley, Richard
;
Olney, Ann H.
;
Pierpont, Mary Ella
;
Schaefer, G. Bradley
;
Stewart, Fiona
;
van Trotsenburg, A. S. Paul
;
Fliers, Eric
;
Schwabe, John W. R.
;
Hennekam, Raoul C.
.
JOURNAL OF MEDICAL GENETICS,
2016, 53 (05)
:330-337

Heinen, Charlotte A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat Endocrinol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Jongejan, Aldo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Watson, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leicester, Henry Wellcome Labs Struct Biol, Dept Biochem, Leicester, Leics, England Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Redeker, Bert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Boelen, Anita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Boudzovitch-Surovtseva, Olga
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Forzano, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Galliera, Med Genet Unit, Genoa, Italy Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Hordijk, Roel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Kelley, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Kennedy Krieger Inst, Div Metab, Baltimore, MD USA Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Olney, Ann H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nebraska Med Ctr, Munroe Meyer Inst Genet & Rehabil, Omaha, NE 68182 USA Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Pierpont, Mary Ella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minnesota, Childrens Hosp & Clin Minnesota, Div Genet, Minneapolis, MN USA Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Schaefer, G. Bradley
论文数: 0 引用数: 0
h-index: 0
机构:
Arkansas Childrens Hosp, Div Med Genet, 800 Marshall St, Little Rock, AR 72202 USA Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Stewart, Fiona
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast City Hosp, Div Med Genet, Belfast BT9 7AD, Antrim, North Ireland Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

van Trotsenburg, A. S. Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat Endocrinol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

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Schwabe, John W. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leicester, Henry Wellcome Labs Struct Biol, Dept Biochem, Leicester, Leics, England Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

Hennekam, Raoul C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands
[9]
SPASTIC PARAPLEGIA, DYSARTHRIA, BRACHYDACTYLY, AND CONE-SHAPED EPIPHYSES - CONFIRMATION OF THE FITZSIMMONS-SYNDROME
[J].
HENNEKAM, RCM
.
JOURNAL OF MEDICAL GENETICS,
1994, 31 (03)
:251-252

HENNEKAM, RCM
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机构:
STATE UNIV AMSTERDAM,AMC,INST HUMAN GENET,1105 AZ AMSTERDAM,NETHERLANDS STATE UNIV AMSTERDAM,AMC,INST HUMAN GENET,1105 AZ AMSTERDAM,NETHERLANDS
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Lacassie Y, 1999, AM J MED GENET, V84, P90, DOI 10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO