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HGG Advances
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November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Human Genetics : EJHG
|
February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Kristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
Ebiomedicine
|
February 13, 2024
Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses
Nikos Papadimitriou, Conghui Qu, Tabitha A Harrison, et al.
HGG Advances
|
September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Mark Drost, Jordy Dekker, Federico Ferraro, et al.
The Journal of Allergy and Clinical Immunology
|
February 22, 2020
Toward personalization of asthma treatment according to trigger factors
Katarzyna Niespodziana, Kristina Borochova, Petra Pazderova, et al.
Allergy
|
June 19, 2012
International consensus on (ICON) pediatric asthma
N G Papadopoulos, H Arakawa, K-H Carlsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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of 83
Search research articles
Search
Showing results (811-820 of 821) with videos related to
Sort By:
Page
of 83
HGG Advances
|
November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Human Genetics : EJHG
|
February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Kristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
Ebiomedicine
|
February 13, 2024
Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses
Nikos Papadimitriou, Conghui Qu, Tabitha A Harrison, et al.
HGG Advances
|
September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Mark Drost, Jordy Dekker, Federico Ferraro, et al.
The Journal of Allergy and Clinical Immunology
|
February 22, 2020
Toward personalization of asthma treatment according to trigger factors
Katarzyna Niespodziana, Kristina Borochova, Petra Pazderova, et al.
Allergy
|
June 19, 2012
International consensus on (ICON) pediatric asthma
N G Papadopoulos, H Arakawa, K-H Carlsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Page
of 83