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1 . Academic Journal
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
저자
by
Kratz, C P
;
Franke, L
;
Peters, H
;
Kohlschmidt, N
;
Kazmierczak, B
, et al.
소스
British Journal of Cancer
. 4/14/2015, Vol. 112 Issue 8, p1392-1397. 6p. 3 Charts.
Web of Science
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7 . Academic Journal
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin
저자
by
Pauli, S
;
von Velsen, N
;
Burfeind, P
;
Steckel, M
;
Mänz, J
, et al.
소스
Clinical Genetics
. Mar 01, 2012 81(3):234-239
Web of Science
Scopus
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7 . Academic Journal
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.
저자
by
Has
;
Burger
;
Volz
;
Kohlhase
;
Bruckner-Tuderman
, et al.
소스
Dermatology (10188665); Dec2010, Vol. 221 Issue 4, p309-312, 4p, 2 Color Photographs
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7 . Academic Journal
New challenges for informed consent through whole genome array testing
저자
by
Netzer, C
;
Klein, C
;
Kohlhase, J
;
Kubisch, C
.
소스
Journal of Medical Genetics
. Jul 01, 2009 46(7):495-496
Full Text (BMJ Journals)
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6 . Academic Journal
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
저자
by
Fischer, S
;
Kohlhase, J
;
Böhm, D
;
Schweiger, B
;
Hoffmann, D
, et al.
소스
Journal of Medical Genetics
. Nov 01, 2008 45(11):731-737
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7 . Academic Journal
Epidermolysis bullosa simplex mit mottled pigmentation: P11/07
저자
by
Andres, C
;
Schnopp, C
;
Kohlhase, J
;
Bruckner-Tuderman, L
;
Hofmann, H
, et al.
소스
Journal der Deutschen Dermatologischen Gesellschaft
. Apr 01, 2007 5 Suppl 2:S194-S194
Web of Science
Scopus
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7 . Academic Journal
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
저자
by
Borozdin, W
;
Boehm, D
;
Leipoldt, M
;
Wilhelm, C
;
Reardon, W
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Sep 01, 2004 41(9):e113-e113
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7 . Academic Journal
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
저자
by
Borozdin, W
;
Wright, M J
;
Hennekam, R C M
;
Hannibal, M C
;
Crow, Y J
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Aug 01, 2004 41(8):e102-e102
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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
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
저자
by
Kohlhase, J
;
Schubert, L
;
Liebers, M
;
Rauch, A
;
Becker, K
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2003 40(7):473-478
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