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Volume 25; Issue 3
Main
Clinical Dysmorphology
Volume 25; Issue 3
Clinical Dysmorphology
Volume 25; Issue 3
1
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
Ozer, Leyla
,
Unsal, Evrim
,
Aktuna, Suleyman
,
Baltaci, Volkan
,
Celikkol, Pelin
,
Akyigit, Fatma
,
Sen, Askin
,
Ayvaz, Ozge
,
Balci, Sevim
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 319 KB
Your tags:
english, 2016
2
Partial monosomy 1q43 and partial trisomy 20q13.2
Ho, Boey S.
,
McCready, Elizabeth
,
Nowaczyk, Malgorzata J.M.
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2016
3
Pycnodysostosis
Mandal, Kausik
,
Ray, Sayantan
,
Saxena, Deepti
,
Srivastava, Priyanka
,
Moirangthem, Amita
,
Ranganath, Prajnya
,
Gupta, Neerja
,
Mukhopadhyay, Satinath
,
Kabra, Madhulika
,
Phadke, Shubha R.
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 429 KB
Your tags:
english, 2016
4
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly
Surányi, Andrea
,
Maróti, Zoltán
,
Tálosi, Gyula
,
Kalmár, Tibor
,
Kaiser, László
,
Bereczki, Csaba
,
Pál, Attila
,
Keresztúri, Attila
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 125 KB
Your tags:
english, 2016
5
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring–Opitz syndrome
Arunachal, Gautham
,
Danda, Sumita
,
Omprakash, Sabita
,
Kumar, Sathish
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 296 KB
Your tags:
english, 2016
6
A girl with a 14.7 Mb 3q26.32–q28 duplication
Pavone, Piero
,
Praticò, Andrea D.
,
Falsaperla, Raffaele
,
Ruggieri, Martino
,
Neri, Giovanni
,
Pavone, Vito
,
Zollino, Marcella
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 451 KB
Your tags:
english, 2016
7
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I
Mackenroth, Luisa
,
Rump, Andreas
,
Lorenz, Peter
,
Schröck, Evelin
,
Tzschach, Andreas
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 163 KB
Your tags:
english, 2016
8
A critical region for ulnar defects in patients with 4q deletions may be narrowed
Lurie, Iosif W.
Journal:
Clinical Dysmorphology
Year:
2016
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2016
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