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C Hamel

Showing results (191-200 of 291) with videos related to

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Journal of Autoimmunity|May 15, 2012
Definition of IFN-γ-related pathways critical for chemically-induced systemic autoimmunityK Michael Pollard, Per Hultman, Christopher B Toomey, et al.
Neuromuscular Disorders : NMD|March 31, 2019
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features<sup>.</sup>M C J Dekker, A A Tieleman, O J Igogo, et al.
Journal Francais D'Ophtalmologie|November 1, 2006
[A murine model of transitory optic neuropathy based on small interference RNA-induced OPA1 silencing in vivo (gene mutation associated with Kjer's disease)]C Depeyre, M Chen-Kuo-Chang, O Payet, et al.
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.
Pageof 30

Showing results (191-200 of 291) with videos related to

Sort By:
Pageof 30
Journal of Autoimmunity|May 15, 2012
Definition of IFN-γ-related pathways critical for chemically-induced systemic autoimmunityK Michael Pollard, Per Hultman, Christopher B Toomey, et al.
Neuromuscular Disorders : NMD|March 31, 2019
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features<sup>.</sup>M C J Dekker, A A Tieleman, O J Igogo, et al.
Journal Francais D'Ophtalmologie|November 1, 2006
[A murine model of transitory optic neuropathy based on small interference RNA-induced OPA1 silencing in vivo (gene mutation associated with Kjer's disease)]C Depeyre, M Chen-Kuo-Chang, O Payet, et al.
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.
Pageof 30