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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover idioma: Inglês remover
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1
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
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A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

van Steensel, M.A.M. ; Spruijt, L. ; van der Burgt, I. ; Bladergroen, R.S. ; Vermeer, M. ; Steijlen, P.M. ; van Geel, M.

American journal of medical genetics, 2005-01, Vol.132A (2), p.171-174 [Periódico revisado por pares]

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

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2
MICRO syndrome: An entity distinct from COFS syndrome
MICRO syndrome: An entity distinct from COFS syndrome
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MICRO syndrome: An entity distinct from COFS syndrome

Graham Jr, John M. ; Hennekam, Raoul ; Dobyns, William B. ; Roeder, Elizabeth ; Busch, David

American journal of medical genetics, 2004-07, Vol.128A (3), p.235-245 [Periódico revisado por pares]

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

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3
Towards improved clinical characterization of Leber congenital amaurosis: Neurological and systemic findings
Towards improved clinical characterization of Leber congenital amaurosis: Neurological and systemic findings
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Towards improved clinical characterization of Leber congenital amaurosis: Neurological and systemic findings

Fazzi, Elisa ; Signorini, Sabrina G. ; Uggetti, Carla ; Bianchi, Paolo Emilio ; Lanners, Josée ; Lanzi, Giovanni

American journal of medical genetics, 2005-01, Vol.132A (1), p.13-19 [Periódico revisado por pares]

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

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4
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes
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Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes

Kumada, Satoko ; Hayashi, Masaharu ; Arima, Kunimasa ; Nakayama, Hiroshi ; Sugai, Kenji ; Sasaki, Masayuki ; Kurata, Kiyoko ; Nagata, Michio

American journal of medical genetics, 2004-11, Vol.131A (1), p.71-76 [Periódico revisado por pares]

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

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5
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
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Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

Bergmann, Carsten ; Zerres, Klaus ; Peschgens, Thomas ; Senderek, Jan ; Hörnchen, Helmut ; Rudnik‐Schöneborn, Sabine

American journal of medical genetics, 2003-08, Vol.121A (2), p.151-155 [Periódico revisado por pares]

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

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6
Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance
Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance
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Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

Alanay, Yasemin ; Boduroǧlu, Koray ; Sönmez, Barış ; Orhan, Mehmet

American journal of medical genetics, 2004-09, Vol.130A (1), p.92-95 [Periódico revisado por pares]

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

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7
Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?
Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?
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Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?

Semerci, C. Nur ; Zorlu, Pelin ; Topal, Yasar ; Izbudak, Izlem ; Karacan, Candemir ; Balci, Sevim

American journal of medical genetics, 2003-07, Vol.120A (2), p.253-255 [Periódico revisado por pares]

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

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8
Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings
Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings
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Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings

Cohen, M. S. ; Samango-Sprouse, C. A. ; Stern, H. J. ; Custer, D. A. ; Vaught, D. R. ; Saal, H. M. ; Tifft, C. J. ; Rosenbaum, K. N.

American journal of medical genetics, 1995-12, Vol.60 (6), p.535-540 [Periódico revisado por pares]

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

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9
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum
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Caruncle abnormalities in the oculo-auriculo-vertebral spectrum

Nijhawan, Navdeep ; Morad, Yair ; Seigel-Bartelt, Jacqueline ; Levin, Alex V.

American journal of medical genetics, 2002-12, Vol.113 (4), p.320-325

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

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10
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
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Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause

Richieri-Costa, A. ; Guion-Almeida, M. L.

American journal of medical genetics, 1993-10, Vol.47 (5), p.702-706

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

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