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Volume 22; Issue 2
Main
Clinical Dysmorphology
Volume 22; Issue 2
Clinical Dysmorphology
Volume 22; Issue 2
1
Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum
Ranganath, Prajnya
,
Dalal, Ashwin B.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 228 KB
Your tags:
english, 2013
2
Circumferential skin folds and multiple anomalies
Ulucan, Hakan
,
Koparir, Erkan
,
Koparir, Asuman
,
Karaca, Ender
,
Emre, Ramazan
,
Gezdirici, Alper
,
Yosunkaya, Elif
,
Seven, Mehmet
,
Ozen, Mustafa
,
Yuksel, Adnan
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 271 KB
Your tags:
english, 2013
3
Subcortical white matter abnormalities because of previously undescribed de-novo 14q12–q13.1 triplication
Rea, Gillian
,
Stallings, Ray L.
,
Mullarkey, Marice
,
McKinstry, C. Steven
,
McManus, David
,
Morrison, Patrick J.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2013
4
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome
Corona-Rivera, Jorge R.
,
Bobadilla-Morales, Lucina
,
Corona-Rivera, Alfredo
,
Aguirre-Guillén, Rafael L.
,
López-Marure, Eloy
,
Mellin-Sánchez, Estrella L.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 198 KB
Your tags:
english, 2013
5
Froster syndrome
Gardham, Alice
,
Burrell, Stephen
,
Scheimberg, Irene
,
Wakeling, Emma
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 211 KB
Your tags:
english, 2013
6
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
Kodaganur, Srinivas G.
,
Tontanahal, Sagar J.
,
Sarda, Astha
,
Shah, Mohd H.
,
Bhat, Vishwanath
,
Kumar, Arun
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 395 KB
Your tags:
english, 2013
7
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B
Habib, Rabia
,
Amin-ud-din, Muhammad
,
Ahmad, Wasim
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 317 KB
Your tags:
english, 2013
8
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy
Vianna, Fernanda S.L.
,
Schüler-Faccini, Lavínia
,
Leite, Julio César L.
,
de Sousa, Silvia H.C.
,
da Costa, Lea Márcia M.
,
Dias, Murilo F.
,
Morelo, Elaine F.
,
Doriqui, Maria Juliana R.
,
Maximino, Claudia
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 336 KB
Your tags:
english, 2013
9
Early childhood presentation of Czech dysplasia
Burrage, Lindsay C.
,
Lu, James T.
,
Liu, David S.
,
Moss, Timothy J.
,
Gibbs, Richard
,
Schlesinger, Alan E.
,
Bacino, Carlos A.
,
Campeau, Philippe M.
,
Lee, Brendan H.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 375 KB
Your tags:
english, 2013
10
Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus
S. Sharaidin, Hanis
,
Knipe, Stephen
,
Bain, Nicole
,
Goel, Himanshu
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 281 KB
Your tags:
english, 2013
11
Two different Temtamy syndromes
Temtamy, Samia A.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 71 KB
Your tags:
english, 2013
12
Dandy–walker malformation with postaxial polydactly
Passalacqua, Cristóbal A.
,
Villegas, Victor P.
,
Aracena, Mariana I.
,
Mellado, Cecilia X.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2013
13
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder
Kilsby, Amanda J.
,
Cruwys, Michele
,
Kukendrajah, Chelvi
,
Russell-Eggitt, Isabelle
,
Raglan, Ewa
,
Rajput, Kaukab
,
Loshe, Peter
,
Brady, Angela F.
Journal:
Clinical Dysmorphology
Year:
2013
Language:
english
File:
PDF, 341 KB
Your tags:
english, 2013
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