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Molecular Genetics & Genomic Medicine
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March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Tuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
European Journal of Human Genetics : EJHG
|
November 14, 2018
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
Florence H J van Tienen, Patrick J Lindsey, Miriam A F Kamps, et al.
Oxford Open Neuroscience
|
August 16, 2023
Prefrontal influences on the function of the neural circuitry underlying anxious temperament in primates
Margaux M Kenwood, Jonathan A Oler, Do P M Tromp, et al.
Human Molecular Genetics
|
July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions
I Huber, M Bitner-Glindzicz, Y J de Kok, et al.
The Journal of Clinical Investigation
|
February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
J W Lenders, G Eisenhofer, N G Abeling, et al.
European Journal of Human Genetics : EJHG
|
January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
Annemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Frontiers in Genetics
|
May 13, 2022
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, et al.
Clinical Genetics
|
September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardation
E M Ruiter, D A Koolen, T Kleefstra, et al.
Brain : a Journal of Neurology
|
October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examination
H G Brunner, H J Smeets, W Nillesen, et al.
Page
of 73
Search research articles
Search
Showing results (401-410 of 727) with videos related to
Sort By:
Page
of 73
Molecular Genetics & Genomic Medicine
|
March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Tuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
European Journal of Human Genetics : EJHG
|
November 14, 2018
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
Florence H J van Tienen, Patrick J Lindsey, Miriam A F Kamps, et al.
Oxford Open Neuroscience
|
August 16, 2023
Prefrontal influences on the function of the neural circuitry underlying anxious temperament in primates
Margaux M Kenwood, Jonathan A Oler, Do P M Tromp, et al.
Human Molecular Genetics
|
July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions
I Huber, M Bitner-Glindzicz, Y J de Kok, et al.
The Journal of Clinical Investigation
|
February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
J W Lenders, G Eisenhofer, N G Abeling, et al.
European Journal of Human Genetics : EJHG
|
January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
Annemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Frontiers in Genetics
|
May 13, 2022
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, et al.
Clinical Genetics
|
September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardation
E M Ruiter, D A Koolen, T Kleefstra, et al.
Brain : a Journal of Neurology
|
October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examination
H G Brunner, H J Smeets, W Nillesen, et al.
Page
of 73