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Human Molecular Genetics|July 1, 1994
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)M L Huie, A S Chen, S S Brooks, et al.
Muscle & Nerve|January 11, 1992
Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2G A Gronert, W Fowler, G H Cardinet, et al.
American Journal of Medical Genetics|November 25, 1992
Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))F R Mattia, T D Wardinsky, D J Tuttle, et al.
Clinical Genetics|June 22, 2010
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinomaA D Sorrell, S Lee, C Stolle, et al.
American Journal of Medical Genetics|June 1, 1987
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneityK A Aleck, A Grix, C Clericuzio, et al.
Cancer Genetics and Cytogenetics|January 1, 1984
Direct prenatal chromosome diagnosis of a malignancyF Hecht, A Grix, B K Hecht, et al.
American Journal of Medical Genetics|July 27, 2001
Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit IIL J Wong, P Dai, D Tan, et al.
American Journal of Medical Genetics|February 1, 1989
Diagnostic criteria for Walker-Warburg syndromeW B Dobyns, R A Pagon, D Armstrong, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Human Molecular Genetics|July 1, 1994
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)M L Huie, A S Chen, S S Brooks, et al.
Muscle & Nerve|January 11, 1992
Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2G A Gronert, W Fowler, G H Cardinet, et al.
American Journal of Medical Genetics|November 25, 1992
Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))F R Mattia, T D Wardinsky, D J Tuttle, et al.
Clinical Genetics|June 22, 2010
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinomaA D Sorrell, S Lee, C Stolle, et al.
American Journal of Medical Genetics|June 1, 1987
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneityK A Aleck, A Grix, C Clericuzio, et al.
Cancer Genetics and Cytogenetics|January 1, 1984
Direct prenatal chromosome diagnosis of a malignancyF Hecht, A Grix, B K Hecht, et al.
American Journal of Medical Genetics|July 27, 2001
Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit IIL J Wong, P Dai, D Tan, et al.
American Journal of Medical Genetics|February 1, 1989
Diagnostic criteria for Walker-Warburg syndromeW B Dobyns, R A Pagon, D Armstrong, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.
Pageof 2