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1 .
Molecular and clinical studies in 8 patients with Temple syndrome
저자
by
Jasmin Beygo
;
S. Schulz
;
Karin Buiting
;
G Gillessen-Kaesbach
;
Thomas Eggermann
, et al.
소스
Clinical Genetics, 93(6), 1179-1188. Wiley
Open Access (OpenAIRE)
Web of Science
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7 .
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
저자
by
Lambert P. van den Heuvel
;
Kinga Hadzsiev
;
Willy M. Nillesen
;
G Gillessen-Kaesbach
;
Eva Morava
, et al.
소스
European Journal of Human Genetics, 19, 138-44
European Journal of Human Genetics, 19, 2, pp. 138-44
Open Access (OpenAIRE)
Web of Science
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7 .
Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome
저자
by
G Gillessen-Kaesbach
;
G Schlippe
;
B P Hauffa
;
Theo Gasser
;
Malgorzata Roos
, et al.
소스
Acta Paediatrica
. 89:1302-1311
Web of Science
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7 .
Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism
저자
by
R. Voigt
;
G Gillessen-Kaesbach
;
J. Gburek-Augustat
;
A. Seidel
.
소스
American Journal of Medical Genetics Part A
. :132-135
Web of Science
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6 .
Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS)
저자
by
G Gillessen-Kaesbach
;
B P Hauffa
;
G Schlippe
.
소스
International Journal of Obesity
. 25:S22-S25
Web of Science
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5 .
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
저자
by
Rebecca Nagy
;
Peter Meinecke
;
Eric Haan
;
Judith A. Westman
;
G Gillessen-Kaesbach
, et al.
소스
Open Access (OpenAIRE)
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7 .
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
저자
by
Lothar Gremer
;
Zornitza Stark
;
Martin Zenker
;
G Gillessen-Kaesbach
;
Ion C. Cirstea
, et al.
소스
Clinical genetics
. 81(6)
Scopus
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7 .
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
저자
by
Kerstin Kutsche
;
M Chyrek
;
Sigrid Tinschert
;
Sigrid Fuchs
;
Fanny Kortüm
, et al.
소스
Open Access (OpenAIRE)
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7 .
Epigenetik und molekulare Mechanismen der Fehlregulation von Genen
저자
by
G Gillessen-Kaesbach
;
NY Souren
;
H Kentenich
;
D. Leitner
;
B Oehl-Jaschkowitz
, et al.
소스
Klinische Pädiatrie
. 222
Scopus
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7 .
The face of Noonan syndrome: Does phenotype predict genotype
저자
by
Silke Pauli
;
Helmuth-Guenther Dörr
;
Christian P. Kratz
;
Salmo Raskin
;
Denise Horn
, et al.
소스
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