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Volume 28; Issue 2
Main
Clinical Dysmorphology
Volume 28; Issue 2
Clinical Dysmorphology
Volume 28; Issue 2
1
Autosomal recessive cutis laxa
Tekedereli, Ibrahim
,
Demiral, Emine
,
Gokce, Ismail K.
,
Esener, Zeynep
,
Camtosun, Emine
,
Akinci, Aysehan
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 171 KB
Your tags:
2019
2
Expanding the phenotype in autosomal dominant mental retardation-24
Sharma, Pankaj
,
Gambhir, Poonam S.
,
Phadke, Shubha R.
,
Mandal, Kausik
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 165 KB
Your tags:
2019
3
A patient with a novel CNTNAP2 homozygous variant
Riccardi, Florence
,
Urquhart, Jill
,
McCullagh, Gary
,
Lawrence, Peter
,
Douzgou, Sofia
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 140 KB
Your tags:
2019
4
Stüve–Wiedemann syndrome
Van De Maele, Karolien
,
Smulders, Charlotte
,
Ecury-Goossen, Ginette
,
Rosina-Angelista, Irsa
,
Redeker, Egbert
,
van Haelst, Mieke
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 173 KB
Your tags:
2019
5
Novel mutation in MASP1 gene in a new family with 3MC syndrome
Basdemirci, Muserref
,
Sen, Askin
,
Ceylaner, Serdar
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 117 KB
Your tags:
2019
6
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome
Nobile, Stefano
,
Pisaneschi, Elisa
,
Novelli, Antonio
,
Carnielli, Virgilio P.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 209 KB
Your tags:
2019
7
De novo Xq21.31–q21.32 duplication in intellectual disability
Cianci, Paola
,
Agosti, Massimo
,
Modena, Piergiorgio
,
Selicorni, Angelo
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 131 KB
Your tags:
2019
8
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation
Bend, Eric G.
,
Louie, Raymond J.
,
Stevenson, Roger E.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 133 KB
Your tags:
2019
9
Apert syndrome with congenital diaphragmatic hernia
Kaur, Ravneet
,
Mishra, Puneeta
,
Kumar, Surjeet
,
Sankar, Mari J.
,
Kabra, Madhulika
,
Gupta, Neerja
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 127 KB
Your tags:
2019
10
LAMM syndrome
Basdemirci, Muserref
,
Zamani, Ayse G.
,
Sener, Sevgi
,
Tassoker, Melek
,
Cetmili, Hayriye
,
Zamani, Adil
,
Aydogdu, Demet
,
Basdemirci, Ali
,
Yildirim, Mahmut S.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 312 KB
Your tags:
2019
11
Meier-Gorlin syndrome
Belaid, Rym
,
Zouaoui, Hsan
,
Yazidi, Meriem
,
Oueslati, Ibtissem
,
Grira, Wafa
,
Chaker, Fatma
,
Chihaoui, Melika
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2019
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