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Volume 18; Issue 4
Main
Clinical Dysmorphology
Volume 18; Issue 4
Clinical Dysmorphology
Volume 18; Issue 4
1
Keyword Index Clinical Dysmorphology 2009
&NA
,
,
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 148 KB
Your tags:
english, 2009
2
The phenotypic spectrum of trisomy 2: report of two new cases
Mihci, Ercan
,
Velagaleti, Gopalrao V.N.
,
Ensenauer, Regina
,
Babovic-Vuksanovic, Dusica
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 207 KB
Your tags:
english, 2009
3
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions
Burkitt Wright, Emma M.M.
,
Perveen, Rahat
,
Clayton, Peter E.
,
Hall, Catherine M.
,
Costa, Teresa
,
Procter, Annie M.
,
Giblin, Carol A.
,
Donnai, Dian
,
Black, Graeme C.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 174 KB
Your tags:
english, 2009
4
MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities
Carman, Kursat Bora
,
Yakut, Ayten
,
Sabuncu, Ilham
,
Yarar, Coskun
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 108 KB
Your tags:
english, 2009
5
Childhood-onset hemiatrophy caused by unilateral morphea
Lehman, Anna M.
,
Patel, Millan S.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 71 KB
Your tags:
english, 2009
6
Dysmorphology of Barth syndrome
Hastings, Rob
,
Steward, Colin
,
Tsai-Goodman, Beverly
,
Newbury-Ecob, Ruth
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 148 KB
Your tags:
english, 2009
7
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview
Douzgou, Sofia
,
Mingarelli, Rita
,
Dallapiccola, Bruno
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 137 KB
Your tags:
english, 2009
8
A case of diploid/triploid mosaicism with dental Blaschko lines
Ludwig, Kathrin
,
Tenconi, Romano
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 98 KB
Your tags:
english, 2009
9
Author Index Clinical Dysmorphology 2009
&NA
,
,
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 189 KB
Your tags:
english, 2009
10
Further evidence of dominant inheritance of Kabuki syndrome
Pottinger, Caroline C.
,
Stiff, Rhianwen E.
,
Holroyd, Judy M.
,
Davies, Sally J.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 251 KB
Your tags:
english, 2009
11
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
Breckpot, Jeroen
,
Thienpont, Bernard
,
Vanhole, Christine
,
Van Rossem, Els
,
Van Schoubroeck, Dominique
,
Fryns, Jean-Pierre
,
Lagae, Lieven
,
Buyse, Gunnar
,
Devriendt, Koen
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 292 KB
Your tags:
english, 2009
12
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams–Oliver syndromes
Pottinger, Caroline Clare
,
Joshi, Harish
,
Rowe, Sharon A.
,
Fryer, Alan E.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 184 KB
Your tags:
english, 2009
13
Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?
Alessandri, Jean-Luc
,
Cartault, François
,
Brayer, Claire
,
Cuillier, Fabrice
,
Rivière, Jean-Pierre
,
Ramful, Duksha
,
Gubler, Marie-Claire
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 96 KB
Your tags:
english, 2009
14
Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion
Rankin, Julia
,
Allwood, Alex
,
Canham, Natalie
,
Delmege, Catherine
,
Crolla, John
,
Maloney, Viv
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 274 KB
Your tags:
english, 2009
15
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling
Houweling, Arjan C.
,
Gille, Johan J.P.
,
Baart, Jacques A.
,
van Hagen, Johanna M.
,
Lachmeijer, Augusta M.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2009
16
Clinical spectrum of Bardet–Biedl syndrome among four Saudi Arabian families
Cherian, Mathew Punnachalil
,
Al-Sannaʼa, Nouriya A.
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2009
17
Roberts syndrome: facial dysmorphology in a mildly affected case
Ahmed, Ayesha Ali
,
Imrie, Stuart
,
Duncan, Rod
,
Tolmie, John
Journal:
Clinical Dysmorphology
Year:
2009
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2009
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