共 50 条
[21]
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions
[J].
Brunet, Theresa
;
Westphal, Dominik S.
;
Weber, Sandrina
;
Juenger, Hendrik
;
Vlaho, Stefan
;
Hoefele, Julia
;
Meitinger, Thomas
;
Rieger-Fackeldey, Esther
;
Wagner, Matias
.
GENE,
2020, 742

Brunet, Theresa
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Westphal, Dominik S.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Weber, Sandrina
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munich, Inst Neurogen, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Juenger, Hendrik
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Dept Pediat, Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Vlaho, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Pediat, Altoetting Burghausen, Altoetting, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Hoefele, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Meitinger, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Rieger-Fackeldey, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Dept Pediat, Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany

Wagner, Matias
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany
Helmholtz Zentrum Munich, Inst Neurogen, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany
[22]
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome
[J].
Faridi, Rabia
;
Stratton, Pamela
;
Salmeri, Noemi
;
Morell, Robert J.
;
Khan, Asma Ali
;
Usmani, Muhammad A.
;
Newman, William G.
;
Riazuddin, Sheikh
;
Friedman, Thomas B.
.
CLINICAL GENETICS,
2024, 105 (05)
:584-586

Faridi, Rabia
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Stratton, Pamela
论文数: 0 引用数: 0
h-index: 0
机构:
NINDS, Off Clin Director, Intramural Res Program, NIH, Bethesda, MD USA NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Salmeri, Noemi
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Rehabil Med Dept, Clin Ctr, Bethesda, MD USA NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Morell, Robert J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCD, Genom & Computat Biol Core, NIH, Bethesda, MD USA NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Khan, Asma Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Usmani, Muhammad A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hlth Sci, Allama Iqbal Med Res Ctr, Jinnah Burn & Reconstruct Surg Ctr, Lahore, Pakistan NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Newman, William G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Evolut Infect & Genom, Manchester, Lancs, England NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Riazuddin, Sheikh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hlth Sci, Allama Iqbal Med Res Ctr, Jinnah Burn & Reconstruct Surg Ctr, Lahore, Pakistan NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA

Friedman, Thomas B.
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA NIDCD, Lab Mol Genet, NIH, Bethesda, MD USA
[23]
A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family
[J].
Shu, Hongyan
;
Chi, Jingwei
;
Li, Jing
;
Zhang, Wei
;
Lv, Wenshan
;
Wang, Jie
;
Deng, Yujie
;
Hou, Xu
;
Wang, Yangang
.
PLOS ONE,
2017, 12 (12)

Shu, Hongyan
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China
Linzi Dist Peoples Hosp, Dept Endocrinol, Zibo, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Chi, Jingwei
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Li, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Linzi Dist Peoples Hosp, Dept Gerontol, Zibo, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Zhang, Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Linzi Dist Peoples Hosp, Dept Thorac Surg, Zibo, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Lv, Wenshan
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Wang, Jie
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Deng, Yujie
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Hou, Xu
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China

Wang, Yangang
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Endocrinol, Qingdao, Peoples R China
[24]
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran
[J].
Yassaee, Vahid Reza
;
Khojasteh, Arash
;
Hashemi-Gorji, Farzad
;
Sadeghi, Hossein
;
Safiaghdam, Hannaneh
;
Mirfakhraie, Reza
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2022, 10 (09)

Yassaee, Vahid Reza
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran
Shahid Beheshti Univ Med Sci, Dept Med Genet, Sch Med, Tehran, Iran Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran

Khojasteh, Arash
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Beheshti Univ Med Sci, Res Inst Dent Sci, Dent Res Ctr, Tehran, Iran Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran

Hashemi-Gorji, Farzad
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
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机构:

Mirfakhraie, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran
Shahid Beheshti Univ Med Sci, Dept Med Genet, Sch Med, Tehran, Iran Shahid Beheshti Univ Med Sci, Genom Res Ctr, Tehran 193954719, Iran
[25]
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
[J].
Rossi, Daniela
;
Palmio, Johanna
;
Evila, Anni
;
Galli, Lucia
;
Barone, Virginia
;
Caldwell, Tracy A.
;
Policke, Rachel A.
;
Aldkheil, Esraa
;
Berndsen, Christopher E.
;
Wright, Nathan T.
;
Malfatti, Edoardo
;
Brochier, Guy
;
Pierantozzi, Enrico
;
Jordanova, Albena
;
Guergueltcheva, Velina
;
Romero, Norma Beatriz
;
Hackman, Peter
;
Eymard, Bruno
;
Udd, Bjarne
;
Sorrentino, Vincenzo
.
PLOS ONE,
2017, 12 (10)

Rossi, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Palmio, Johanna
论文数: 0 引用数: 0
h-index: 0
机构:
Tampere Univ, Neuromuscular Res Ctr, Tampere, Finland
Univ Hosp, Tampere, Finland Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Evila, Anni
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
Univ Helsinki, Haartman Inst, Dept Med Genet, Helsinki, Finland Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Galli, Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Barone, Virginia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Caldwell, Tracy A.
论文数: 0 引用数: 0
h-index: 0
机构:
James Madison Univ, Dept Chem & Biochem, Harrisonburg, VA 22807 USA Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Policke, Rachel A.
论文数: 0 引用数: 0
h-index: 0
机构:
James Madison Univ, Dept Chem & Biochem, Harrisonburg, VA 22807 USA Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Aldkheil, Esraa
论文数: 0 引用数: 0
h-index: 0
机构:
James Madison Univ, Dept Chem & Biochem, Harrisonburg, VA 22807 USA Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Berndsen, Christopher E.
论文数: 0 引用数: 0
h-index: 0
机构:
James Madison Univ, Dept Chem & Biochem, Harrisonburg, VA 22807 USA Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Wright, Nathan T.
论文数: 0 引用数: 0
h-index: 0
机构:
James Madison Univ, Dept Chem & Biochem, Harrisonburg, VA 22807 USA Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Malfatti, Edoardo
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France
Grp Hosp La Pitie Salpetriere, Myol Inst, Reference Ctr Neuromuscular Dis, Paris, France Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Brochier, Guy
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France
Grp Hosp La Pitie Salpetriere, Myol Inst, Reference Ctr Neuromuscular Dis, Paris, France Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Pierantozzi, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

论文数: 引用数:
h-index:
机构:

Guergueltcheva, Velina
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Sofia, Dept Neurol, Sofia, Bulgaria Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Romero, Norma Beatriz
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France
Grp Hosp La Pitie Salpetriere, Myol Inst, Reference Ctr Neuromuscular Dis, Paris, France Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Hackman, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
Univ Helsinki, Haartman Inst, Dept Med Genet, Helsinki, Finland Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Eymard, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France
Grp Hosp La Pitie Salpetriere, Myol Inst, Reference Ctr Neuromuscular Dis, Paris, France Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

Udd, Bjarne
论文数: 0 引用数: 0
h-index: 0
机构:
Tampere Univ, Neuromuscular Res Ctr, Tampere, Finland
Univ Hosp, Tampere, Finland
Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
Univ Helsinki, Haartman Inst, Dept Med Genet, Helsinki, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland Univ Siena, Dept Mol & Dev Med, Mol Med Sect, Siena, Italy

论文数: 引用数:
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机构:
[26]
A Novel Mutation in Leptin Gene Is Associated with Severe Obesity in Chinese Individuals
[J].
Zhao, Yue
;
Hong, Nanchao
;
Liu, Xiao
;
Wu, Beibei
;
Tang, Shanshan
;
Yang, Jianjun
;
Hu, Cheng
;
Jia, Weiping
.
BIOMED RESEARCH INTERNATIONAL,
2014, 2014

Zhao, Yue
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Hong, Nanchao
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Liu, Xiao
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Wu, Beibei
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Tang, Shanshan
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Yang, Jianjun
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Dept Gen Surg, Sch Med, Shanghai 200011, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Hu, Cheng
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, South Branch, Shanghai 201400, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China

Jia, Weiping
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Lab Diabet Mellitus,Translat Med Ctr, Shanghai Diabet Inst,Dept Endocrinol & Metab, Shanghai 200233, Peoples R China
[27]
A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
[J].
Proenca da Fonseca, Ana Carolina
;
Abreu, Gabriella de Medeiros
;
Palhinha, Lohanna
;
Zembrzuski, Veronica Marques
;
Campos Junior, Mario
;
Ivar Carneiro, Joao Regis
;
Nogueira Neto, Jose Firmino
;
Mattos Magno, Fernanda Cristina C.
;
Rosado, Eliane Lopes
;
Maya-Monteiro, Clarissa Menezes
;
Kalil de Cabello, Giselda Maria
;
Cabello, Pedro Hernan
;
Bozza, Patricia Torres
.
DIABETES METABOLIC SYNDROME AND OBESITY-TARGETS AND THERAPY,
2021, 14
:11-22

Proenca da Fonseca, Ana Carolina
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Human Genet Lab, 4365 Brasil Ave,Leonidas Deane Bldg,Off 611-615, BR-21040360 Rio De Janeiro, RJ, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Abreu, Gabriella de Medeiros
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Human Genet Lab, 4365 Brasil Ave,Leonidas Deane Bldg,Off 611-615, BR-21040360 Rio De Janeiro, RJ, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

论文数: 引用数:
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论文数: 引用数:
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Campos Junior, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Human Genet Lab, 4365 Brasil Ave,Leonidas Deane Bldg,Off 611-615, BR-21040360 Rio De Janeiro, RJ, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Ivar Carneiro, Joao Regis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio de Janeiro, Clementino Fraga Filho Univ Hosp, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Nogueira Neto, Jose Firmino
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Estado Rio De Janeiro, Dept Pathol & Lab, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Mattos Magno, Fernanda Cristina C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio de Janeiro, Inst Nutr Josue de Castro, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Rosado, Eliane Lopes
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio de Janeiro, Inst Nutr Josue de Castro, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Maya-Monteiro, Clarissa Menezes
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Kalil de Cabello, Giselda Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Human Genet Lab, 4365 Brasil Ave,Leonidas Deane Bldg,Off 611-615, BR-21040360 Rio De Janeiro, RJ, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Cabello, Pedro Hernan
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Human Genet Lab, 4365 Brasil Ave,Leonidas Deane Bldg,Off 611-615, BR-21040360 Rio De Janeiro, RJ, Brazil
Grande Rio Univ, Human Genet Lab, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil

Bozza, Patricia Torres
论文数: 0 引用数: 0
h-index: 0
机构:
Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Lab Immunopharmacol, Rio De Janeiro, Brazil
[28]
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
[J].
Hanna, Patrick
;
Grybek, Virginie
;
Perez de Nanclares, Guiomar
;
Tran, Lea C.
;
de Sanctis, Luisa
;
Elli, Francesca
;
Errea, Javier
;
Francou, Bruno
;
Kamenicky, Peter
;
Linglart, Lea
;
Pereda, Arrate
;
Rothenbuhler, Anya
;
Tessaris, Daniele
;
Thiele, Susanne
;
Usardi, Alessia
;
Shoemaker, Ashley H.
;
Kottler, Marie-Laure
;
Juppner, Harald
;
Mantovani, Giovanna
;
Linglart, Agnes
.
JOURNAL OF BONE AND MINERAL RESEARCH,
2018, 33 (08)
:1480-1488

Hanna, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U1169, Le Kremlin Bicetre, France
Paris Sud Paris Saclay Univ, Bictre Paris Sud Hosp, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Grybek, Virginie
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U1169, Le Kremlin Bicetre, France
Paris Sud Paris Saclay Univ, Bictre Paris Sud Hosp, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Perez de Nanclares, Guiomar
论文数: 0 引用数: 0
h-index: 0
机构:
OSI Araba Univ Hosp, BioAraba Natl Hlth Inst, Mol EpiGenet Lab, Vitoria, Spain INSERM, U1169, Le Kremlin Bicetre, France

Tran, Lea C.
论文数: 0 引用数: 0
h-index: 0
机构:
Caen Normandy Univ, Univ Caen Normandie, Caen Univ Hosp, Mol Genet Lab,Med Sch,BioTARGEN, Caen, France INSERM, U1169, Le Kremlin Bicetre, France

de Sanctis, Luisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Torino, Regina Margherita Children Hosp, Dept Publ Hlth & Pediat Sci, Paediat Endocrinol Unit, Turin, Italy INSERM, U1169, Le Kremlin Bicetre, France

Elli, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Clin Sci & Community Hlth, Fdn IRCCS Ca Granda Osped Maggiore Policlin Endoc, Milan, Italy INSERM, U1169, Le Kremlin Bicetre, France

Errea, Javier
论文数: 0 引用数: 0
h-index: 0
机构:
OSI Araba Univ Hosp, BioAraba Natl Hlth Inst, Mol EpiGenet Lab, Vitoria, Spain INSERM, U1169, Le Kremlin Bicetre, France

Francou, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Bicetre Paris Sud Hosp, APHP, Dept Mol Genet, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Kamenicky, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Bicetre Paris Sud Hosp, APHP, Dept Endocrinol & Reprod Dis, Le Kremlin Bicetre, France
Bicetre Paris Sud Hosp, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR & Platform Expertise Rare Dis Paris, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Linglart, Lea
论文数: 0 引用数: 0
h-index: 0
机构:
Bicetre Paris Sud Hosp, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR & Platform Expertise Rare Dis Paris, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Pereda, Arrate
论文数: 0 引用数: 0
h-index: 0
机构:
OSI Araba Univ Hosp, BioAraba Natl Hlth Inst, Mol EpiGenet Lab, Vitoria, Spain INSERM, U1169, Le Kremlin Bicetre, France

Rothenbuhler, Anya
论文数: 0 引用数: 0
h-index: 0
机构:
Bicetre Paris Sud Hosp, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR & Platform Expertise Rare Dis Paris, Le Kremlin Bicetre, France
Bicetre Paris Sud Hosp, APHP, Endocrinol & Diabet Children, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Tessaris, Daniele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Torino, Regina Margherita Children Hosp, Dept Publ Hlth & Pediat Sci, Paediat Endocrinol Unit, Turin, Italy INSERM, U1169, Le Kremlin Bicetre, France

Thiele, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lubeck, Div Expt Pediat Endocrinol & Diabet, Dept Pediat, Ctr Brain Behav & Metab, Lubeck, Germany INSERM, U1169, Le Kremlin Bicetre, France

Usardi, Alessia
论文数: 0 引用数: 0
h-index: 0
机构:
Bicetre Paris Sud Hosp, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR & Platform Expertise Rare Dis Paris, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France

Shoemaker, Ashley H.
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Med Ctr, Nashville, TN USA INSERM, U1169, Le Kremlin Bicetre, France

Kottler, Marie-Laure
论文数: 0 引用数: 0
h-index: 0
机构:
Caen Normandy Univ, Univ Caen Normandie, Caen Univ Hosp, Mol Genet Lab,Med Sch,BioTARGEN, Caen, France INSERM, U1169, Le Kremlin Bicetre, France

Juppner, Harald
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Endocrine Unit, Boston, MA 02114 USA
Massachusetts Gen Hosp, Pediat Nephrol Unit, Boston, MA 02114 USA
Harvard Med Sch, Boston, MA USA INSERM, U1169, Le Kremlin Bicetre, France

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Linglart, Agnes
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U1169, Le Kremlin Bicetre, France
Paris Sud Paris Saclay Univ, Bictre Paris Sud Hosp, Le Kremlin Bicetre, France
Bicetre Paris Sud Hosp, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR & Platform Expertise Rare Dis Paris, Le Kremlin Bicetre, France
Bicetre Paris Sud Hosp, APHP, Endocrinol & Diabet Children, Le Kremlin Bicetre, France INSERM, U1169, Le Kremlin Bicetre, France
[29]
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family
[J].
Li, Hui
;
Liu, Guodong
;
Lu, Bei
;
Zhou, Xin
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MOLECULAR GENETICS AND METABOLISM REPORTS,
2024, 40

Li, Hui
论文数: 0 引用数: 0
h-index: 0
机构:
Binzhou Med Univ, Zibo Cent Hosp, Dept Anesthesiol, Zibo 255036, Peoples R China Binzhou Med Univ, Zibo Cent Hosp, Dept Anesthesiol, Zibo 255036, Peoples R China

Liu, Guodong
论文数: 0 引用数: 0
h-index: 0
机构:
Binzhou Med Univ, Zibo Cent Hosp, Dept Gastroenterol, Zibo 255036, Peoples R China Binzhou Med Univ, Zibo Cent Hosp, Dept Anesthesiol, Zibo 255036, Peoples R China

Lu, Bei
论文数: 0 引用数: 0
h-index: 0
机构:
Binzhou Med Univ, Zibo Cent Hosp, Dept Nucl Med & Radiotherapy, Zibo 255036, Peoples R China Binzhou Med Univ, Zibo Cent Hosp, Dept Anesthesiol, Zibo 255036, Peoples R China

Zhou, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Binzhou Med Univ, Zibo Cent Hosp, Dept Gastroenterol, Zibo 255036, Peoples R China Binzhou Med Univ, Zibo Cent Hosp, Dept Anesthesiol, Zibo 255036, Peoples R China
[30]
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy
[J].
Nakashima, Mitsuko
;
Negishi, Yutaka
;
Hori, Ikumi
;
Hattori, Ayako
;
Saitoh, Shinji
;
Saitsu, Hirotomo
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2019, 179 (04)
:645-649

Nakashima, Mitsuko
论文数: 0 引用数: 0
h-index: 0
机构:
Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

Negishi, Yutaka
论文数: 0 引用数: 0
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机构:
Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

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Hattori, Ayako
论文数: 0 引用数: 0
h-index: 0
机构:
Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

Saitoh, Shinji
论文数: 0 引用数: 0
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机构:
Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

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