Search research articles
Contact Us
Filters
Showing results (111-120 of 165) with videos related to
Page
of 17
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
Nathalie Brison, Jazz Storms, Darine Villela, et al.
Human Reproduction (Oxford, England)
|
January 10, 2023
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, et al.
Journal of Medical Genetics
|
November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Manon Suerink, Tim Ripperger, Ludwine Messiaen, et al.
Journal of Medical Genetics
|
January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletions
Nele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Developmental Medicine and Child Neurology
|
September 28, 2024
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial
Myrthe J Ottenhoff, Sabine E Mous, Jesminne Castricum, et al.
Genome Biology
|
June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Julia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2019
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis
Rosalie E Ferner, Annette Bakker, Ype Elgersma, et al.
Genes, Chromosomes & Cancer
|
October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
Eline Beert, Hilde Brems, Bruno Daniëls, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
Page
of 17
Search research articles
Search
Showing results (111-120 of 165) with videos related to
Sort By:
Page
of 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
Nathalie Brison, Jazz Storms, Darine Villela, et al.
Human Reproduction (Oxford, England)
|
January 10, 2023
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, et al.
Journal of Medical Genetics
|
November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Manon Suerink, Tim Ripperger, Ludwine Messiaen, et al.
Journal of Medical Genetics
|
January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletions
Nele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Developmental Medicine and Child Neurology
|
September 28, 2024
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial
Myrthe J Ottenhoff, Sabine E Mous, Jesminne Castricum, et al.
Genome Biology
|
June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Julia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2019
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis
Rosalie E Ferner, Annette Bakker, Ype Elgersma, et al.
Genes, Chromosomes & Cancer
|
October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
Eline Beert, Hilde Brems, Bruno Daniëls, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
Page
of 17