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Volume 24; Issue 3
Main
Clinical Dysmorphology
Volume 24; Issue 3
Clinical Dysmorphology
Volume 24; Issue 3
1
Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome
Tanteles, George A.
,
Michaelidou, Sofia
,
Loukianou, Eleni
,
Christophidou-Anastasiadou, Violetta
,
Kleopa, Kleopas A.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 125 KB
Your tags:
english, 2015
2
Rutherfurd syndrome revisited
Higgs, Jenny E.
,
Clayton-Smith, Jill
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 146 KB
Your tags:
english, 2015
3
Dysmorphologic assessment in 115 Mayer–Rokitansky–Küster–Hauser patients
Lalatta, Faustina
,
Motta, Francesca
,
Restelli, Elisa
,
Bellini, Martina
,
Miozzo, Monica
,
Gervasini, Cristina
,
Dallapiccola, Bruno
,
Gentilin, Barbara
,
Fedele, Luigi
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 251 KB
Your tags:
english, 2015
4
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5
Low, Karen J.
,
Buxton, Chris C.
,
Newbury-Ecob, Ruth A.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 52 KB
Your tags:
english, 2015
5
A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis
Gürkan, Hakan
,
Fischer, Judith
,
Ulusal, Selma
,
Vatansever, Ülfet
,
Hartmann, Britta
,
Tozkr, Hilmi
,
Schlipf, Nina
,
Acunaş, Betül Ayşe
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2015
6
Bilateral absence of the ulna in 4q terminal deletion syndrome
Meaux, Tyson
,
Zeringue, Amy
,
Mumphrey, Christy
,
Barkemeyer, Brian
,
Marble, Michael
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 91 KB
Your tags:
english, 2015
7
Three new families with recurrent male miscarriages and hypercoiled umbilical cord
Hoffman, Jodi D.
,
Kleeman, Linda
,
Kennelly, Kelly
,
Honey, Engela
,
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2015
8
Chondrodysplasia punctata tibia metacarpal type
Shukla, Anju
,
Phadke, Shubha R.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2015
9
A clinical case report and literature review of the 3q29 microdeletion syndrome
Cox, Devin M.
,
Butler, Merlin G.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 141 KB
Your tags:
english, 2015
10
Familial craniosynostosis associated with a microdeletion involving the NFIA gene
Nyboe, Daniel
,
Kreiborg, Sven
,
Kirchhoff, Maria
,
Hove, Hanne B.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2015
11
Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31)
Osio, Deborah
,
Jain, Neeraj
,
Archer, Nick
,
Turnpenny, Peter D.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2015
12
A third report of Apert syndrome in association with diaphragmatic hernia
Sobaih, Badr H.
,
AlAli, Asaad A.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 87 KB
Your tags:
english, 2015
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