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European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
Nature Genetics
|
April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
Journal of the American College of Cardiology
|
September 15, 2022
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
Luis Escobar-Lopez, Juan Pablo Ochoa, Ana Royuela, et al.
Circulation. Heart Failure
|
September 24, 2025
Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy
Sophie L V M Stroeks, Marco Merlo, Nerea Mora-Ayestaran, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2016
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Charlotte W Ockeloen, Kriti D Khandelwal, Karoline Dreesen, et al.
American Journal of Human Genetics
|
April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
Anneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
Genome Medicine
|
February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variants
Luciana Musante, Pavel Janos, Giulia Pianigiani, et al.
HGG Advances
|
November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
American Journal of Medical Genetics. Part A
|
October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Sonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
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of 32
Search research articles
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Showing results (261-270 of 318) with videos related to
Sort By:
Page
of 32
European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
Nature Genetics
|
April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
Journal of the American College of Cardiology
|
September 15, 2022
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
Luis Escobar-Lopez, Juan Pablo Ochoa, Ana Royuela, et al.
Circulation. Heart Failure
|
September 24, 2025
Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy
Sophie L V M Stroeks, Marco Merlo, Nerea Mora-Ayestaran, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2016
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Charlotte W Ockeloen, Kriti D Khandelwal, Karoline Dreesen, et al.
American Journal of Human Genetics
|
April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
Anneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
Genome Medicine
|
February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variants
Luciana Musante, Pavel Janos, Giulia Pianigiani, et al.
HGG Advances
|
November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
American Journal of Medical Genetics. Part A
|
October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Sonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Page
of 32