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Volume 20; Issue 4
Main
Clinical Dysmorphology
Volume 20; Issue 4
Clinical Dysmorphology
Volume 20; Issue 4
1
Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype
Nowaczyk, Małgorzata J.M.
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2011
2
Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome
Donnelly, Deirdre E.
,
Turnpenny, Peter
,
McConnell, Vivienne P.M.
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 271 KB
Your tags:
english, 2011
3
Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations
Cesaretti, Claudia
,
Gentilin, Barbara
,
Bianchi, Vera
,
Melloni, Giulia
,
Bonaguro, Michela
,
Rossi, Cesare
,
Meazzini, Costanza
,
Brusati, Roberto
,
Lalatta, Faustina
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 116 KB
Your tags:
english, 2011
4
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome
Cosar, Hese
,
Kahramaner, Zelal
,
Erdemir, Aydin
,
Turkoglu, Ebru
,
Kanik, Ali
,
Sutcuoglu, Sumer
,
Onay, Hüseyin
,
Alpman, Asude
,
Ozkinay, Ferda
,
Ozer, Esra Arun
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2011
5
Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)
Wierzba, Jolanta
,
Kuzniacka, Alina
,
Ratajska, Magdalena
,
Lipska, Beata Stefania
,
Kardas, Iwona
,
Iliszko, Mariola
,
Limon, Janusz
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 117 KB
Your tags:
english, 2011
6
Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region
AlFardan, Jaffar
,
Brown, Kathleen
,
Gessner, Janine
,
Lunt, Brenda
,
Scharer, Gunter
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 197 KB
Your tags:
english, 2011
7
Agenesis of the vocal cords in a female infant with Robin sequence
Corona-Rivera, Jorge Román
,
Yanowsky-Reyes, Guillermo
,
Arnaud-López, Lisette
,
Bobadilla-Morales, Lucina
,
Aguirre-Guillén, Rafael Luis
,
Jasso-Bernal, Jesús Estiven
,
Corona-Rivera, Alfredo
,
Aguirre-Jáur
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2011
8
Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails
Girisha, Katta Mohan
,
Vasudevan, Thanvanthri Gururajan
,
Saadi, Abdul Vahab
,
Shah, Hitesh
,
Gopinath, Puthiya Mundyat
,
Satyamoorthy, Kapaettu
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 168 KB
Your tags:
english, 2011
9
A photographic essay of prolidase deficiency
Dunn, Rebecca
,
Varigos, George
,
Winship, Ingrid
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 330 KB
Your tags:
english, 2011
10
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother
Al Kaissi, Ali
,
Roetzer, Katharina M.
,
Heitzer, Ellen
,
Ben Chehida, Farid
,
Ben Ghachem, Maher
,
Klaushofer, Klaus
,
Grill, Franz
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 212 KB
Your tags:
english, 2011
11
Tel Hashomer camptodactyly syndrome in identical twin infants
Smolkin, Tatiana
,
Blazer, Shraga
,
Gershoni-Baruch, Ruth
,
Makhoul, Imad R.
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 108 KB
Your tags:
english, 2011
12
Adams–Oliver syndrome, a family with dominant inheritance and a severe phenotype
Vandersteen, Anthony M.
,
Dixon, Joanne W.
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 172 KB
Your tags:
english, 2011
13
Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects
Kant, Hakan
,
Özkan, Azra Arc
,
Öner, Soner Recai
,
İspahi, Ciğdem
,
Endrikat, Jan Siegfried
,
Ertan, Kubilay
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2011
14
‘Pure’ partial trisomy 11q (11q23.1→11qter)
Zimberg-Bossira, Avishag
,
Smolkin, Tatiana
,
Gildish, Anna
,
Moustafa-Hawash, Nivin
,
Blazer, Shraga
,
Gershoni-Baruch, Ruth
,
Makhoul, Imad R.
Journal:
Clinical Dysmorphology
Year:
2011
Language:
english
File:
PDF, 150 KB
Your tags:
english, 2011
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