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American Journal of Human Genetics
|
March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangements
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
American Journal of Human Genetics
|
March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
A Maugeri, M A van Driel, D J van de Pol, et al.
JACC. Heart Failure
|
August 28, 2023
Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size
Maurits A Sikking, Sophie L V M Stroeks, Michiel T H M Henkens, et al.
Journal of Medical Genetics
|
December 14, 2004
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
D A Koolen, W M Nillesen, M H A Versteeg, et al.
Nature Genetics
|
March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, et al.
American Journal of Human Genetics
|
October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
American Journal of Human Genetics
|
March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
Janson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG
|
January 21, 2011
Homozygosity mapping in outbred families with mental retardation
Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, et al.
Genes, Brain, and Behavior
|
August 19, 2014
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus
D-C Cai, H Fonteijn, T Guadalupe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
Page
of 73
Search research articles
Search
Showing results (511-520 of 727) with videos related to
Sort By:
Page
of 73
American Journal of Human Genetics
|
March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangements
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
American Journal of Human Genetics
|
March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
A Maugeri, M A van Driel, D J van de Pol, et al.
JACC. Heart Failure
|
August 28, 2023
Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size
Maurits A Sikking, Sophie L V M Stroeks, Michiel T H M Henkens, et al.
Journal of Medical Genetics
|
December 14, 2004
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
D A Koolen, W M Nillesen, M H A Versteeg, et al.
Nature Genetics
|
March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, et al.
American Journal of Human Genetics
|
October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
American Journal of Human Genetics
|
March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
Janson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG
|
January 21, 2011
Homozygosity mapping in outbred families with mental retardation
Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, et al.
Genes, Brain, and Behavior
|
August 19, 2014
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus
D-C Cai, H Fonteijn, T Guadalupe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
Page
of 73