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R D Nicholls

Showing results (81-90 of 107) with videos related to

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American Journal of Human Genetics|August 1, 1997
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndromeJ M Conroy, T A Grebe, L A Becker, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 1999
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromesJ M Gabriel, M Merchant, T Ohta, et al.
Nature Genetics|October 1, 1996
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneB Dittrich, K Buiting, B Korn, et al.
American Journal of Human Genetics|February 11, 1999
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutationT Ohta, K Buiting, H Kokkonen, et al.
Human Molecular Genetics|February 9, 1999
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalitiesY Ji, M J Walkowicz, K Buiting, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 23, 1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutationsS Saitoh, K Buiting, P K Rogan, et al.
Human Molecular Genetics|November 1, 1994
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)S T Lee, R D Nicholls, R E Schnur, et al.
Nature|October 10, 1985
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16S T Reeders, M H Breuning, K E Davies, et al.
American Journal of Human Genetics|June 15, 2007
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiencyM He, S L Rutledge, D R Kelly, et al.
American Journal of Medical Genetics|May 1, 1989
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndromeU Tantravahi, R D Nicholls, H Stroh, et al.
Pageof 11

Showing results (81-90 of 107) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|August 1, 1997
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndromeJ M Conroy, T A Grebe, L A Becker, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 1999
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromesJ M Gabriel, M Merchant, T Ohta, et al.
Nature Genetics|October 1, 1996
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneB Dittrich, K Buiting, B Korn, et al.
American Journal of Human Genetics|February 11, 1999
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutationT Ohta, K Buiting, H Kokkonen, et al.
Human Molecular Genetics|February 9, 1999
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalitiesY Ji, M J Walkowicz, K Buiting, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 23, 1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutationsS Saitoh, K Buiting, P K Rogan, et al.
Human Molecular Genetics|November 1, 1994
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)S T Lee, R D Nicholls, R E Schnur, et al.
Nature|October 10, 1985
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16S T Reeders, M H Breuning, K E Davies, et al.
American Journal of Human Genetics|June 15, 2007
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiencyM He, S L Rutledge, D R Kelly, et al.
American Journal of Medical Genetics|May 1, 1989
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndromeU Tantravahi, R D Nicholls, H Stroh, et al.
Pageof 11