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European Journal of Human Genetics : EJHG
|
July 31, 2014
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Sarah Vergult, Annelies Dheedene, Alfred Meurs, et al.
Reproductive Biomedicine Online
|
June 22, 2026
Integrating PGT-A into PGT-M protocols in young ART-naïve patients undergoing single embryo transfer
Frauke Vanden Meerschaut, Emma Deweirdt, Margot Kint, et al.
Human Reproduction Open
|
October 11, 2024
Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance
Lisa De Witte, Machteld Baetens, Kelly Tilleman, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2019
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut, Aude Beyens, Wouter Steyaert, et al.
Journal of Medical Genetics
|
May 17, 2026
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes
Joséphine Blancke, Suzanne Vanhauwaert, Stijn Van de Sompele, et al.
Clinical Epigenetics
|
December 19, 2024
Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling
Machteld Baetens, Bram Van Gaever, Stephanie Deblaere, et al.
Scientific Reports
|
November 25, 2024
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Griet De Clercq, Lies Vantomme, Barbara Dewaele, et al.
Human Mutation
|
August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
Ophélia Maertens, Hilde Brems, Jo Vandesompele, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Identification of Codon 146 <i>KRAS</i> Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
Aude Beyens, Laure Dequeker, Hilde Brems, et al.
Orphanet Journal of Rare Diseases
|
January 24, 2012
Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, et al.
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Search research articles
Search
Showing results (31-40 of 79) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
July 31, 2014
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Sarah Vergult, Annelies Dheedene, Alfred Meurs, et al.
Reproductive Biomedicine Online
|
June 22, 2026
Integrating PGT-A into PGT-M protocols in young ART-naïve patients undergoing single embryo transfer
Frauke Vanden Meerschaut, Emma Deweirdt, Margot Kint, et al.
Human Reproduction Open
|
October 11, 2024
Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance
Lisa De Witte, Machteld Baetens, Kelly Tilleman, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2019
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut, Aude Beyens, Wouter Steyaert, et al.
Journal of Medical Genetics
|
May 17, 2026
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes
Joséphine Blancke, Suzanne Vanhauwaert, Stijn Van de Sompele, et al.
Clinical Epigenetics
|
December 19, 2024
Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling
Machteld Baetens, Bram Van Gaever, Stephanie Deblaere, et al.
Scientific Reports
|
November 25, 2024
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Griet De Clercq, Lies Vantomme, Barbara Dewaele, et al.
Human Mutation
|
August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
Ophélia Maertens, Hilde Brems, Jo Vandesompele, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Identification of Codon 146 <i>KRAS</i> Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
Aude Beyens, Laure Dequeker, Hilde Brems, et al.
Orphanet Journal of Rare Diseases
|
January 24, 2012
Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, et al.
Page
of 8