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Journal of Medical Genetics
|
November 2, 2010
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Ian M Carr, Nick Camm, Graham R Taylor, et al.
The Surgeon : Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
|
August 19, 2015
Postoperative exercise training is associated with reduced respiratory infection rates and early discharge: A case-control study
N R Bhatt, G Sheridan, M Connolly, et al.
Human Mutation
|
November 5, 2011
Identification of autosomal recessive disease loci using out-bred nuclear families
Ian M Carr, Christine P Diggle, Nader Touqan, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2022
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
Marilena Elpidorou, James A Poulter, Katarzyna Szymanska, et al.
Human Mutation
|
March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome
Danielle Ingham, Christine P Diggle, Ian Berry, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
Christopher M Watson, Laura A Crinnion, Antigoni Tzika, et al.
Environment International
|
August 10, 2023
Chemical characteristics of wildfire ash across the globe and their environmental and socio-economic implications
C Sánchez-García, C Santín, J Neris, et al.
Journal of Medical Genetics
|
October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics
|
December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
Erica L Harris, Vincent Roy, Martin Montagne, et al.
Page
of 6
Search research articles
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Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
Journal of Medical Genetics
|
November 2, 2010
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Ian M Carr, Nick Camm, Graham R Taylor, et al.
The Surgeon : Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
|
August 19, 2015
Postoperative exercise training is associated with reduced respiratory infection rates and early discharge: A case-control study
N R Bhatt, G Sheridan, M Connolly, et al.
Human Mutation
|
November 5, 2011
Identification of autosomal recessive disease loci using out-bred nuclear families
Ian M Carr, Christine P Diggle, Nader Touqan, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2022
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
Marilena Elpidorou, James A Poulter, Katarzyna Szymanska, et al.
Human Mutation
|
March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome
Danielle Ingham, Christine P Diggle, Ian Berry, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
Christopher M Watson, Laura A Crinnion, Antigoni Tzika, et al.
Environment International
|
August 10, 2023
Chemical characteristics of wildfire ash across the globe and their environmental and socio-economic implications
C Sánchez-García, C Santín, J Neris, et al.
Journal of Medical Genetics
|
October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics
|
December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
Erica L Harris, Vincent Roy, Martin Montagne, et al.
Page
of 6