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Refinado por: Lista de Todas as Versões American Journal Of Medical Genetics. Part A remover Lista de Todas as Versões Male remover
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

Nimmo, Graeme A. M. ; Ejaz, Resham ; Cordeiro, Dawn ; Kannu, Peter ; Mercimek‐Andrews, Saadet

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.399-403 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia
Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia
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Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

Kilic, Sara Sebnem ; Donmez, Osman ; Sloan, Emily A. ; Elizondo, Leah I. ; Huang, Cheng ; André, Jean‐Luc ; Bogdanovic, Radovan ; Cockfield, Sandra ; Cordeiro, Isabel ; Deschenes, Georges ; Fründ, Stefan ; Kaitila, Ilkka ; Lama, Giuliana ; Lamfers, Petra ; Lücke, Thomas ; Milford, David V. ; Najera, Lydia ; Rodrigo, Francisco ; Saraiva, Jorge M. ; Schmidt, Beate ; Smith, Graham C. ; Stajic, Nastasa ; Stein, Anja ; Taha, Doris ; Wand, Dorothea ; Armstrong, Dawna ; Boerkoel, Cornelius F.

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.206-210 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Tatton-Brown, Katrina ; Murray, Anne ; Hanks, Sandra ; Douglas, Jenny ; Armstrong, Ruth ; Banka, Siddharth ; Bird, Lynne M. ; Clericuzio, Carol L. ; Cormier-Daire, Valerie ; Cushing, Tom ; Flinter, Frances ; Jacquemont, Marie-Line ; Joss, Shelagh ; Kinning, Esther ; Lynch, Sally Ann ; Magee, Alex ; McConnell, Vivienne ; Medeira, Ana ; Ozono, Keiichi ; Patton, Michael ; Rankin, Julia ; Shears, Debbie ; Simon, Marleen ; Splitt, Miranda ; Strenger, Volker ; Stuurman, Kyra ; Taylor, Clare ; Titheradge, Hannah ; Van Maldergem, Lionel ; Temple, I. Karen ; Cole, Trevor ; Seal, Sheila ; Rahman, Nazneen

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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4
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges
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Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges

Walker, Susan ; Lamoureux, Sylvia ; Khan, Tayyaba ; Joynt, Alyssa C. M. ; Bradley, Melissa ; Branson, Helen M. ; Carter, Melissa T. ; Hayeems, Robin Z. ; Jagiello, Lukasz ; Marshall, Christian R. ; Meyn, M. Stephen ; Miller, Steven P. ; Wilson, Diane ; Scherer, Stephen W. ; Blaser, Susan ; Mireskandari, Kamiar ; Costain, Gregory

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3129-3135 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Further delineation of Kabuki syndrome in 48 well-defined new individuals
Further delineation of Kabuki syndrome in 48 well-defined new individuals
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Further delineation of Kabuki syndrome in 48 well-defined new individuals

Armstrong, Linlea ; Moneim, Azza Abd El ; Aleck, Kirk ; Aughton, David J. ; Baumann, Clarisse ; Braddock, Stephen R. ; Gillessen-Kaesbach, Gabriele ; Graham Jr, John M. ; Grebe, Theresa A. ; Gripp, Karen W. ; Hall, Bryan D. ; Hennekam, Raoul ; Hunter, Alasdair ; Keppler-Noreuil, Kim ; Lacombe, Didier ; Lin, Angela E. ; Ming, Jeffrey E. ; Kokitsu-Nakata, Nancy Mizue ; Nikkel, Sarah M. ; Philip, Nicole ; Raas-Rothschild, Annick ; Sommer, Annemarie ; Verloes, Alain ; Walter, Claudia ; Wieczorek, Dagmar ; Williams, Marc S. ; Zackai, Elaine ; Allanson, Judith E.

American journal of medical genetics, 2005-01, Vol.132A (3), p.265-272 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
A girl with fragile X premutation from sperm donation
A girl with fragile X premutation from sperm donation
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A girl with fragile X premutation from sperm donation

Wirojanan, Juthamas ; Angkustsiri, Kathleen ; Tassone, Flora ; Gane, Louise W. ; Hagerman, Randi J.

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.888-892 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Fatal lymphoproliferative disorder in a child with Schimke immuno‐osseous dysplasia
Fatal lymphoproliferative disorder in a child with Schimke immuno‐osseous dysplasia
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Fatal lymphoproliferative disorder in a child with Schimke immuno‐osseous dysplasia

Taha, Doris ; Boerkoel, Cornelius F. ; Balfe, John Williamson ; Khalifah, Mohammed ; Sloan, Emily A. ; Barbar, Maha ; Haider, Abdulrazzaq ; Kanaan, Hassan

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.194-199 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children
Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children
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Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children

Bouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Jansen, Anna C. ; Rijn, Sophie

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.1943-1953 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Bone marrow transplantation in Schimke immuno-osseous dysplasia
Bone marrow transplantation in Schimke immuno-osseous dysplasia
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Bone marrow transplantation in Schimke immuno-osseous dysplasia

Baradaran-Heravi, Alireza ; Lange, Jonas ; Asakura, Yumi ; Cochat, Pierre ; Massella, Laura ; Boerkoel, Cornelius F.

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2609-2613 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report
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Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report

Marguet, Florent ; Laquerrière, Annie ; Goldenberg, Alice ; Guerrot, Anne-Marie ; Quenez, Olivier ; Flahaut, Philippe ; Vanhulle, Catherine ; Dumant-Forest, Clémentine ; Charbonnier, Françoise ; Vezain, Myriam ; Bekri, Soumeya ; Tournier, Isabelle ; Frébourg, Thierry ; Nicolas, Gaël

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1317-1324 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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