A Clinical Study of Type 2 Neurofibromatosis
D. G R Evans;S. M. Huson;D. Donnai;W. Neary.
QJM: An International Journal of Medicine (1992)
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
Rajiv D Machado;Michael W. Pauciulo;Jennifer R. Thomson;Kirk B. Lane.
American Journal of Human Genetics (2001)
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
D. G. R. Evans;S. M. Huson;D. Donnai;W. Neary.
Journal of Medical Genetics (1992)
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
S J Landy;D Donnai.
Journal of Medical Genetics (1993)
Williams syndrome: from genotype through to the cognitive phenotype.
Dian Donnai;Annette Karmiloff-Smith.
American Journal of Medical Genetics (2000)
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
M C J Jongmans;R J Admiraal;K P van der Donk;L E L M Vissers.
Journal of Medical Genetics (2005)
Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes
Mayada Tassabehji;Kay Metcalfe;Annette Karmiloff-Smith;Martin J. Carette.
American Journal of Human Genetics (1999)
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai.
Nature Genetics (2004)
Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Sibel Kantarci;Lihadh Al-Gazali;R Sean Hill;R Sean Hill;Dian Donnai.
Nature Genetics (2007)
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
A. Polinkovsky;N.H. Robin;J.T. Thomas;M. Irons.
Nature Genetics (1997)
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