J. Ende

发表

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

A. Ouweland, M. Goedbloed, F. Jansen, 2009, European Journal of Human Genetics.

Disclosure Pattern and Follow-Up After the Molecular Diagnosis of BRCA/CHEK2 Mutations

B. Blaumeiser, J. Ende, D. Kegelaers, 2014, Journal of Genetic Counseling.

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

K. Devriendt, G. Mortier, J. Fryns, 2004, European Journal of Human Genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity

W. Robberecht, V. Timmerman, E. Nelis, 2009, Neuromuscular Disorders.

Genetic and clinical aspects of neurofibromatosis type 1: study of a large sample of affected brazilian individuals

Y. Bever, J. Ende, L. A. Praxedes, 2008 .

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Jason J. Corneveaux, M. Bitner-Glindzicz, G. Mortier, 2016, Human mutation.

Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic

P. Heyning, F. Declau, A. Boudewyns, 2016, European Journal of Pediatrics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

M Dioszegi, K Lindpaintner, P. Tacconi, 2001, Human molecular genetics.

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

C. Stratakis, W. Hul, J. van den Ende, 1999, American journal of human genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.