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B C Hamel

Showing results (71-80 of 129) with videos related to

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Parkinsonism & Related Disorders|March 21, 2020
PRKN-related familial Parkinson's disease: First molecular confirmation from East AfricaM C J Dekker, J M Suleiman, D Bhwana, et al.
Muscle & Nerve|April 1, 1988
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine familiesS P Sinkeler, E M Joosten, R A Wevers, et al.
Journal of Medical Genetics|July 1, 1996
Xeroderma pigmentosum--Cockayne syndrome complex: a further caseB C Hamel, A Raams, A R Schuitema-Dijkstra, et al.
Clinical Dysmorphology|May 8, 1998
The cerebro-costo-mandibular syndrome: seven patients and review of the literatureJ J van den Ende, C Schrander-Stumpel, E Rupprecht, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Evidence against a major role of PEG1/MEST in Silver-Russell syndromeA M Riesewijk, N Blagitko, A A Schinzel, et al.
Journal of Medical Genetics|January 1, 1995
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndromeF A Hol, B C Hamel, M P Geurds, et al.
European Journal of Medical Genetics|December 9, 2008
Compound-heterozygous Marfan syndromeF S Van Dijk, B C Hamel, Y Hilhorst-Hofstee, et al.
Clinical Genetics|August 26, 1998
Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrumB C Hamel, G Pals, C H Engels, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutationN C Voermans, M Kempers, M Lammens, et al.
Pageof 13

Showing results (71-80 of 129) with videos related to

Sort By:
Pageof 13
Parkinsonism & Related Disorders|March 21, 2020
PRKN-related familial Parkinson's disease: First molecular confirmation from East AfricaM C J Dekker, J M Suleiman, D Bhwana, et al.
Muscle & Nerve|April 1, 1988
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine familiesS P Sinkeler, E M Joosten, R A Wevers, et al.
Journal of Medical Genetics|July 1, 1996
Xeroderma pigmentosum--Cockayne syndrome complex: a further caseB C Hamel, A Raams, A R Schuitema-Dijkstra, et al.
Clinical Dysmorphology|May 8, 1998
The cerebro-costo-mandibular syndrome: seven patients and review of the literatureJ J van den Ende, C Schrander-Stumpel, E Rupprecht, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Evidence against a major role of PEG1/MEST in Silver-Russell syndromeA M Riesewijk, N Blagitko, A A Schinzel, et al.
Journal of Medical Genetics|January 1, 1995
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndromeF A Hol, B C Hamel, M P Geurds, et al.
European Journal of Medical Genetics|December 9, 2008
Compound-heterozygous Marfan syndromeF S Van Dijk, B C Hamel, Y Hilhorst-Hofstee, et al.
Clinical Genetics|August 26, 1998
Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrumB C Hamel, G Pals, C H Engels, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutationN C Voermans, M Kempers, M Lammens, et al.
Pageof 13