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Isabelle Delon

Showing results (11-20 of 20) with videos related to

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Nature|July 17, 2007
Morphological evolution through multiple cis-regulatory mutations at a single geneAlistair P McGregor, Virginie Orgogozo, Isabelle Delon, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
Intensive Care Medicine|March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenCourtney E French, Isabelle Delon, Helen Dolling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2020
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing dataXiao Chen, Alba Sanchis-Juan, Courtney E French, et al.
Neurobiology of Aging|September 24, 2024
Corrigendum to: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10 G>T at the intron 9/exon 10 of the MAPT geneDiana A Olszewska, Conor Fearon, Christopher McGuigan, et al.
Neurobiology of Aging|July 18, 2021
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT geneDiana A Olszewska, Conor Fearon, Christopher McGuigan, et al.
HGG Advances|May 19, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodCourtney E French, Helen Dolling, Karyn Mégy, et al.
Brain : a Journal of Neurology|August 23, 2015
Closing the tau loop: the missing tau mutationAllan McCarthy, Roisin Lonergan, Diana A Olszewska, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Nature|July 17, 2007
Morphological evolution through multiple cis-regulatory mutations at a single geneAlistair P McGregor, Virginie Orgogozo, Isabelle Delon, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
Intensive Care Medicine|March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenCourtney E French, Isabelle Delon, Helen Dolling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2020
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing dataXiao Chen, Alba Sanchis-Juan, Courtney E French, et al.
Neurobiology of Aging|September 24, 2024
Corrigendum to: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10 G>T at the intron 9/exon 10 of the MAPT geneDiana A Olszewska, Conor Fearon, Christopher McGuigan, et al.
Neurobiology of Aging|July 18, 2021
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT geneDiana A Olszewska, Conor Fearon, Christopher McGuigan, et al.
HGG Advances|May 19, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodCourtney E French, Helen Dolling, Karyn Mégy, et al.
Brain : a Journal of Neurology|August 23, 2015
Closing the tau loop: the missing tau mutationAllan McCarthy, Roisin Lonergan, Diana A Olszewska, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Pageof 2