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Volume 28; Issue 1
Main
Clinical Dysmorphology
Volume 28; Issue 1
Clinical Dysmorphology
Volume 28; Issue 1
1
UBE2A-related X-linked intellectual disability
Stevenson, Roger E.
,
Chudley, Albert E.
,
Srivastava, Anand K.
,
Rodriguez, Jayson
,
Friez, Michael J.
,
Schwartz, Charles E.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 213 KB
Your tags:
2019
2
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly
Isik, Esra
,
Atik, Tahir
,
Ozkinay, Ferda
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2019
3
The second report on spondyloepimetaphyseal dysplasia, aggrecan type
Fukuhara, Yasuyuki
,
Cho, Sung Y.
,
Miyazaki, Osamu
,
Hattori, Atsushi
,
Seo, Joo-Hyun
,
Mashima, Ryuichi
,
Kosuga, Motomichi
,
Fukami, Maki
,
Jin, Dong-Kyu
,
Okuyama, Torayuki
,
Nishimura, Gen
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 168 KB
Your tags:
english, 2019
4
UBE2A-related X-linked intellectual disability
Stevenson, Roger E.
,
Chudley, Albert E.
,
Srivastava, Anand K.
,
Rodriguez, Jayson
,
Friez, Michael J.
,
Schwartz, Charles E.
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2019
5
Type VI syndactyly with skeletal dysplasia
Sasaki, Erina
,
Phelan, Ethna
,
Brenner, Clare
,
Brosnahan, Donal
,
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 216 KB
Your tags:
2019
6
Type VI syndactyly with skeletal dysplasia
Sasaki, Erina
,
Phelan, Ethna
,
Brenner, Clare
,
Brosnahan, Donal
,
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2019
7
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature
Grímsdóttir, Sigrún
,
Hove, Hanne B.
,
Kreiborg, Sven
,
Ek, Jakob
,
Johansen, Anders
,
Darvann, Tron A.
,
Hermann, Nuno V.
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2019
8
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature
Grímsdóttir, Sigrún
,
Hove, Hanne B.
,
Kreiborg, Sven
,
Ek, Jakob
,
Johansen, Anders
,
Darvann, Tron A.
,
Hermann, Nuno V.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 249 KB
Your tags:
2019
9
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
Erdogan, Mehmet A.
,
Seckin, Yuksel
,
Harputluoglu, Muhsin M.
,
Karincaoglu, Melih
,
Aladag, Murat
,
Caliskan, Ali R.
,
Bilgic, Yilmaz
,
Yildirim, Oguzhan
,
Cagin, Yasir F.
,
Atayan, Yahya
,
Cengiz, Ayse N.
,
Em
Journal:
Clinical Dysmorphology
Year:
2019
Language:
english
File:
PDF, 204 KB
Your tags:
english, 2019
10
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
Radhakrishnan, Periyasamy
,
Moirangthem, Amita
,
Nayak, Shalini S.
,
Shukla, Anju
,
Mathew, Mary
,
Girisha, Katta M.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 232 KB
Your tags:
2019
11
Ophthalmic manifestations associated with RARB mutations
Wangtiraumnuay, Nutsuchar
,
Kopinsky, Sarina
,
Iyer, Prashanth
,
Capasso, Jenina
,
Whitehead, Rick
,
Schneider, Adele
,
Levin, Alex V.
Journal:
Clinical Dysmorphology
Year:
2019
File:
PDF, 146 KB
Your tags:
2019
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