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1
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]

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2
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]

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3
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]

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4
Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia
Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia
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Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia

Lücke, Thomas ; Clewing, Johanna M. ; Boerkoel, Cornelius F. ; Hartmann, Hans ; Das, Anibh M. ; Knauth, Michael ; Becker, Hartmut ; Donnerstag, Frank

American journal of medical genetics. Part A, 2007-09, Vol.143A (17), p.2040-2045 [Periódico revisado por pares]

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5
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
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A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS

Aguilar, Dalila ; Sigford, Kathryn E. ; Soontarapornchai, Kultida ; Nguyen, Danh V. ; Adams, Patrick E. ; Yuhas, Jennifer M. ; Tassone, Flora ; Hagerman, Paul J. ; Hagerman, Randi J.

American journal of medical genetics. Part A, 2008-03, Vol.146A (5), p.629-635 [Periódico revisado por pares]

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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]

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7
Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
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Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

Lehman, Anna M. ; McFadden, Deborah ; Pugash, Denise ; Sangha, Karan ; Gibson, William T. ; Patel, Millan S.

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1299-1306 [Periódico revisado por pares]

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8
Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey
Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey
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Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

Bailey Jr, Donald B. ; Raspa, Melissa ; Olmsted, Murrey ; Holiday, David B.

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2060-2069 [Periódico revisado por pares]

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9
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
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The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

Fecarotta, Simona ; Amitrano, Michele ; Romano, Alfonso ; Della Casa, Roberto ; Bruschini, Diana ; Astarita, Luca ; Parenti, Giancarlo ; Andria, Generoso

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.540-547 [Periódico revisado por pares]

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10
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation
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Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation

Basuta, Kirin ; Narcisa, Vivien ; Chavez, Alyssa ; Kumar, Madhur ; Gane, Louise ; Hagerman, Randi ; Tassone, Flora

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.519-525 [Periódico revisado por pares]

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