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BMJ Open Diabetes Research & Care
|
October 17, 2020
tRNA methyltransferase 10 homologue A (<i>TRMT10A</i>) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly
Hu Lin, Xuelian Zhou, Xuefeng Chen, et al.
Journal of Medical Genetics
|
January 1, 1996
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
E Treacy, C Polychronakos, M Vekemans, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1998
Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression
A M Riesewijk, Y Q Xu, M T Schepens, et al.
Human Molecular Genetics
|
April 10, 2010
In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
Hui-Qi Qu, Jonathan P Bradfield, Quan Li, et al.
Molecular Psychiatry
|
May 30, 2012
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
C S Ku, C Polychronakos, E K Tan, et al.
Frontiers in Endocrinology
|
May 20, 2025
Investigating <i>TSHR</i> gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism
Zakiye Nadeali, Zohreh Mohammadi-Zaniani, Sajjad Biglari, et al.
Human Mutation
|
June 3, 2010
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Emilie Lalonde, Steffen Albrecht, Kevin C H Ha, et al.
Journal of the Neurological Sciences
|
October 25, 2016
Central nervous system involvement in multiple symmetric lipomatosis
V K Kimiskidis, V Papaliagkas, S Papagiannopoulos, et al.
Frontiers in Immunology
|
March 3, 2023
Clinical application of immune repertoire sequencing in solid organ transplant
Paaksum Wong, Davide P Cina, Karen R Sherwood, et al.
Ebiomedicine
|
June 25, 2025
Metabolome-wide Mendelian randomisation reveals causal links between circulating metabolites and type 1 diabetes
Basile Jumentier, Isabel Gamache, Dominika A Michalek, et al.
Page
of 52
Search research articles
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Showing results (181-190 of 512) with videos related to
Sort By:
Page
of 52
BMJ Open Diabetes Research & Care
|
October 17, 2020
tRNA methyltransferase 10 homologue A (<i>TRMT10A</i>) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly
Hu Lin, Xuelian Zhou, Xuefeng Chen, et al.
Journal of Medical Genetics
|
January 1, 1996
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
E Treacy, C Polychronakos, M Vekemans, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1998
Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression
A M Riesewijk, Y Q Xu, M T Schepens, et al.
Human Molecular Genetics
|
April 10, 2010
In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
Hui-Qi Qu, Jonathan P Bradfield, Quan Li, et al.
Molecular Psychiatry
|
May 30, 2012
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
C S Ku, C Polychronakos, E K Tan, et al.
Frontiers in Endocrinology
|
May 20, 2025
Investigating <i>TSHR</i> gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism
Zakiye Nadeali, Zohreh Mohammadi-Zaniani, Sajjad Biglari, et al.
Human Mutation
|
June 3, 2010
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Emilie Lalonde, Steffen Albrecht, Kevin C H Ha, et al.
Journal of the Neurological Sciences
|
October 25, 2016
Central nervous system involvement in multiple symmetric lipomatosis
V K Kimiskidis, V Papaliagkas, S Papagiannopoulos, et al.
Frontiers in Immunology
|
March 3, 2023
Clinical application of immune repertoire sequencing in solid organ transplant
Paaksum Wong, Davide P Cina, Karen R Sherwood, et al.
Ebiomedicine
|
June 25, 2025
Metabolome-wide Mendelian randomisation reveals causal links between circulating metabolites and type 1 diabetes
Basile Jumentier, Isabel Gamache, Dominika A Michalek, et al.
Page
of 52