D. Witt

发表

Identification of copy number variants associated with BPES-like phenotypes

E. Bakker, C. Ruivenkamp, R. Hennekam, 2008, Human Genetics.

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

B. Trask, G. van den Engh, H. Mefford, 1996, Human Genetics.

Propionic acidemia: a neuropathology case report and review of prior cases.

B. Harris, D. Witt, B. Feliz, 2009, Archives of pathology & laboratory medicine.

Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

K. Klinger, P. Rowley, W. Grody, 1999, Genetics in Medicine.

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

J. Opitz, H. Hoyme, J. Fryns, 1987, American journal of medical genetics.

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.

M. Hayden, K. Holbrook, D. Witt, 1986, American journal of medical genetics.

Bleeding diathesis in Noonan syndrome: a common association.

J. Opitz, J. Allanson, A. Zipursky, 1988, American journal of medical genetics.

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

A. Barkovich, A. V. van Kuilenburg, G. Enns, 2004, Journal of Inherited Metabolic Disease.

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

M. Hayden, K. Holbrook, H. Toriello, 1987, The Journal of investigative dermatology.

A mutation in CFTR produces different phenotypes depending on chromosomal background

L. Tsui, R. Crystal, M. Macek, 1993, Nature Genetics.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

D. Kelsell, E. Sprecher, C. Mein, 2005, American journal of human genetics.

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.

E. Roeder, D. Rimoin, A. Elliott, 2000, American journal of medical genetics.

Cystic fibrosis heterozygote screening in 5,161 pregnant women.

B. Blumberg, S. Kornfeld, D. Witt, 1996, American journal of human genetics.

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Victoria M. Pratt, Michael S. Watson, Wayne W. Grody, 2004, Genetics in Medicine.

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

J. Lupski, C. Broeckhoven, E. Nelis, 1996, Neuron.

Desbuquois syndrome: clinical, radiographic, and morphologic characterization.

D. Rimoin, H. Gruber, M. Shohat, 1994, American journal of medical genetics.

Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype

J. Hall, D. Witt, Brian Biedermann, 1985, Clinical genetics.

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Lee-Jun C Wong, Michio Hirano, Joanna Wiszniewska, 2011, Journal of Human Genetics.

Growth curves for height in Noonan syndrome

J E Allanson, J. Allanson, B. Keena, 1986, Clinical genetics.

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.

K. Klinger, R. Stern, R. Parad, 1993, Human molecular genetics.