D. Pilz

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

( DIDMOAD ) . observed in a patient with Wolfram syndrome with Leber ' s hereditary optic neuropathy Mitochondrial mutation commonly associated

E. Jones, D. Pilz, W. Quarrell, 2022 .

A3243G mitochondrial mutation associated with polymicrogyria.

D. Fitzpatrick, D. Pilz, W. Keng, 2003, Developmental medicine and child neurology.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Food aversion and facial dysmorphism--a newly described syndrome?

M. Porteous, D. Pilz, W. Keng, 2002, Clinical dysmorphology.

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

N. Rahman, J. Schouten, Y. Gillerot, 2005, Journal of Medical Genetics.

Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

J. Schouten, Y. Gillerot, A. Irrthum, 2005 .

A3243G mitochondrial mutation associated with polymicrogyria

D. Pilz, W. Keng, B. Minns, 2003 .

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

D. K. Williams, K. Springell, K. Chandler, 2006, Brain : a journal of neurology.

Baraitser–Winter cerebrofrontofacial syndrome

D. Pilz, D. Pilz, C. Turner, 2017, Clinical genetics.

Identification of five novel SPRED1 germline mutations in Legius syndrome

G. Spurlock, U. Kini, M. Upadhyaya, 2011, Clinical genetics.