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1 . Academic Journal
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis
저자
by
Perdu, B
;
Lakeman, P
;
Mortier, G
;
Koenig, R
;
Lachmeijer, A MA
, et al.
소스
Clinical Genetics
. Oct 01, 2011 80(4):383-388
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7 . Academic Journal
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
저자
by
van Bon, B W M
;
Mefford, H C
;
Menten, B
;
Koolen, D A
;
Sharp, A J
, et al.
소스
Journal of Medical Genetics
. Aug 01, 2009 46(8):511-523
Full Text (BMJ Journals)
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7 . Academic Journal
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
저자
by
Willaert, A
;
Malfait, F
;
Symoens, S
;
Gevaert, K
;
Kayserili, H
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2009 46(4):233-241
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7 . Academic Journal
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
저자
by
Buysse, K
;
Crepel, A
;
Menten, B
;
Pattyn, F
;
Antonacci, F
, et al.
소스
Journal of Medical Genetics
. Oct 01, 2008 45(10):672-678
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7 . Academic Journal
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
저자
by
Menten, B
;
Maas, N
;
Thienpont, B
;
Buysse, K
;
Vandesompele, J
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Aug 01, 2006 43(8):625-633
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7 . Academic Journal
Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
저자
by
Thauvin-Robinet, C
;
Cossée, M
;
Cormier-Daire, V
;
Van Maldergem, L
;
Toutain, A
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Jan 01, 2006 43(1):54-61
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7 . Academic Journal
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
저자
by
Keren, B
;
Hadchouel, A
;
Saba, S
;
Sznajer, Y
;
Bonneau, D
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Nov 01, 2004 41(11):e117-e117
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7 . Academic Journal
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
저자
by
Kohlhase, J
;
Liebers, M
;
Backe, J
;
Baumann-Müller, A
;
Bembea, M
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Nov 01, 2003 40(11):e127-e127
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7 . Academic Journal
The annual incidence of DiGeorge/velocardiofacial syndrome
저자
by
DEVRIENDT, K
;
FRYNS, J-P
;
MORTIER, G
;
VAN THIENEN, M-N
;
KEYMOLEN, K
.
소스
Journal of Medical Genetics
. Sep 01, 1998 35(9):789-790
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7 .
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)
저자
by
Robertson, S
;
Jenkins, Z
;
Morgan, T
;
Ades, L
;
Aftimos, S
, et al.
소스
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