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Volume 16; Issue 3
Main
Clinical Dysmorphology
Volume 16; Issue 3
Clinical Dysmorphology
Volume 16; Issue 3
1
Osteogenesis imperfecta and holoprosencephaly
Wainwright, Helen
,
Beighton, Peter
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2007
2
Unilateral partial absence of the fallopian tube in Williams syndrome: a new feature?
van der Veldt, Astrid A.M.
,
Kleijn, Sebastiaan A.
,
Pernet, Paula J.M.
,
Oostra, Roelof-Jan
,
Jansweijer, Maaike C.E.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2007
3
Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins
Al Kaissi, Ali
,
Klaushofer, Klaus
,
Krebs, Alexander
,
Grill, Franz
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 247 KB
Your tags:
english, 2007
4
Cranio-osteoarthropathy in sibs
Dabir, Tabib
,
Sills, A.M.
,
Hall, Christine M.
,
Bennett, Chris
,
Wilson, Louise C.
,
Hennekam, Raoul C.M.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 189 KB
Your tags:
english, 2007
5
Parkes Weber syndrome occurring in a family with capillary malformations
Brunetti-Pierri, Nicola
,
Seidel, Glen F.
,
Levy, Moise L.
,
Reid Sutton, V.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 283 KB
Your tags:
english, 2007
6
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
Zechi-Ceide, Roseli Maria
,
Guion-Almeida, Maria Leine
,
de Oliveira Rodini, Elaine Sbroggio
,
Jesus Oliveira, N??lio Alessandro
,
Passos-Bueno, Maria Rita
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 189 KB
Your tags:
english, 2007
7
Adams???Oliver syndrome: further evidence of an autosomal recessive variant
Temtamy, Samia A.
,
Aglan, Mona S.
,
Ashour, Adel M.
,
Zaki, Maha S.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 473 KB
Your tags:
english, 2007
8
A new case of VACTERL association with unilateral amelia of upper limb
Pelluard-Nehm??, Fanny
,
Baudet, Christel
,
Carles, Dominique
,
Alberti, Eve Marie
,
Delrue, Marie Ange
,
Lacombe, Didier
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 211 KB
Your tags:
english, 2007
9
Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome
Tang, Ben
,
Reardon, Willie
,
Black, Graeme C.
,
Kerr, Bronwyn A.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 242 KB
Your tags:
english, 2007
10
Preaxial polydactyly in neurofibromatosis 1
Shinawi, Marwan
,
Patel, Millan S.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2007
11
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual ???Cooley-like??? hand appearance
Pallotta, Rosanna
,
Saponari, Anita
,
Domizio, Sergio
,
Amato, Antonio
,
Lelli-Chiesa, Pierluigi
,
Turnpenny, Peter D.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 146 KB
Your tags:
english, 2007
12
Kallmann syndrome presenting as congenital ptosis in brothers
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2007
13
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy
Do??anc, T??may
,
Y??ksel Konuk, Berrin E.
,
Alpan, Nursel
,
Konuk, Onur
,
H??m??l??inen, Riikka H.
,
Lehesjoki, Anna-Elina
,
Tekin, Mustafa
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2007
14
Velocardiofacial syndrome with a rare t(2;22)
Huber, Jair
,
Rainho, Claudia A.
,
Gomes, Marcus V.
,
Santos, Silvio A.
,
Ramos, Ester S.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 115 KB
Your tags:
english, 2007
15
Seckel syndrome with Morgagni hernia
Onder, Asan
,
Cogulu, Ozgur
,
Ekmekci, Aslihan
,
Pariltay, Erhan
,
Kirbiyik, Ozgur
,
Ozkinay, Ferda
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 100 KB
Your tags:
english, 2007
16
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)
Foley, Patricia
,
McAuliffe, Fionnuala
,
Mullarkey, Marice
,
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2007
17
Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature
Zherebtsov, Monica M.
,
Klein, Rachel T.
,
Aviv, Hana
,
Toruner, Gokce A.
,
Hanna, Nazeeh N.
,
Brooks, Susan Sklower
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 176 KB
Your tags:
english, 2007
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