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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover assunto: Biological And Medical Sciences remover
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1
Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis
Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis
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Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis

Vassal, Humberto ; Medeira, Ana ; Cordeiro, Isabel ; Santos, Heloísa G. ; Castedo, Sérgio ; Saraiva, Célia ; da Silva, Patricia Mendes ; Monteiro, Carolino

American journal of medical genetics, 2001-04, Vol.99 (4), p.331-334

New York: John Wiley & Sons, Inc

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2
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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3
Unexpected life-threatening complications in Kabuki syndrome
Unexpected life-threatening complications in Kabuki syndrome
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Unexpected life-threatening complications in Kabuki syndrome

van Haelst, Mieke M. ; Brooks, Alice S. ; Hoogeboom, Jeannette ; Wessels, Marja W. ; Tibboel, Dick ; de Jongste, Johan C. ; den Hollander, Jan C. ; Bongers-Schokking, Jacoba J. ; Niermeijer, Martinus F. ; Willems, Patrick J.

American journal of medical genetics, 2000-09, Vol.94 (2), p.170-173

New York: John Wiley & Sons, Inc

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4
Schinzel-Giedion syndrome: Evidence for a neurodegenerative process
Schinzel-Giedion syndrome: Evidence for a neurodegenerative process
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Schinzel-Giedion syndrome: Evidence for a neurodegenerative process

Shah, Ashish M. ; Smith, Michael F. ; Griffiths, Paul D. ; Quarrell, Oliver W.J.

American journal of medical genetics, 1999-02, Vol.82 (4), p.344-347

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
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Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

Courtens, Winnie ; Rassart, Anne ; Stene, Jean-Jacques ; Vamos, Esther

American journal of medical genetics, 2000-07, Vol.93 (3), p.244-249

New York: John Wiley & Sons, Inc

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6
Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax
Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax
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Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax

Farrell, S. A. ; Warda, L. J. ; Laflair, P. ; Szymonowicz, W.

American journal of medical genetics, 1993-12, Vol.47 (8), p.1175-1179

New York: Wiley Subscription Services, Inc., A Wiley Company

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7
Genotype analysis of the NF1 gene in the French Canadians from the Québec population
Genotype analysis of the NF1 gene in the French Canadians from the Québec population
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Genotype analysis of the NF1 gene in the French Canadians from the Québec population

Fang, Lijuan ; Chalhoub, Nader ; Li, Wentian ; Feingold, Josué ; Ortenberg, June ; Lemieux, Bernard ; Thirion, Jean-Paul

American journal of medical genetics, 2001-12, Vol.104 (3), p.189-198

New York: John Wiley & Sons, Inc

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8
Werner mesomelic dysplasia with Hirschsprung disease
Werner mesomelic dysplasia with Hirschsprung disease
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Werner mesomelic dysplasia with Hirschsprung disease

Goldenberg, Alice ; Milh, Mathieu ; de Lagausie, Pascal ; Mesnage, Renaud ; Benarif, Fatiha ; De Blois, Marie‐Christine ; Munnich, Arnold ; Lyonnet, Stanislas ; Cormier‐Daire, Valérie

American journal of medical genetics, 2003-12, Vol.123A (2), p.186-189 [Periódico revisado por pares]

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

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9
Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
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Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance

Hing, Anne V. ; Syed, Nadia ; Cunningham, Michael L.

American journal of medical genetics, 2004-08, Vol.128A (4), p.374-382 [Periódico revisado por pares]

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

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10
Patient with Kabuki syndrome and acute leukemia
Patient with Kabuki syndrome and acute leukemia
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Patient with Kabuki syndrome and acute leukemia

Scherer, Sabine ; Theile, Ursel ; Beyer, Vera ; Ferrari, Rudolf ; Kreck, Christiane ; Rister, Manfred

American journal of medical genetics, 2003-09, Vol.122A (1), p.76-79 [Periódico revisado por pares]

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

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