Suchergebnisse - "Humans"

PubPharm (20)

1

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

enthalten in: Journal of medical genetics | 2015

von Rajab, A. | Schuelke, M. | Gill, E. | +4

2

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum

enthalten in: Journal of medical genetics | 2010

von Abbaszadeh, F. | Clingen, P. | Arlett, C. | +7

3

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

enthalten in: Journal of medical genetics | 2009

von Kratz, C. | Holter, S. | Etzler, J. | +5

4

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

enthalten in: Journal of medical genetics | 2007

von Menten, B. | Buysse, K. | Zahir, F. | +11

5

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

enthalten in: Journal of medical genetics | 2006

von Lubs, H. | Abidi, F. | Echeverri, R. | +4

6

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

enthalten in: Journal of medical genetics | 2005

von Shackleton, S. | Smallwood, D. | Clayton, P. | +4

7

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

enthalten in: Journal of medical genetics | 2003

von Philip, N. | Chabrol, B. | Lossi, A. | +5

8

Relationship between clinical and genetic diagnosis of Prader-Willi syndrome

enthalten in: Journal of medical genetics | 2002

von Whittington, J. | Holland, A. | Webb, T. | +3

9

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

enthalten in: Journal of medical genetics | 2002

von Bartsch, O. | Locher, K. | Meinecke, P. | +5

10

Mosaicism for FMR1 and FMR2 deletion : a new case

enthalten in: Journal of medical genetics | 2002

von Fengler, S. | Fuchs, S. | König, R. | +1