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American Journal of Medical Genetics. Part A
|
August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patients
Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology
|
June 13, 2018
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant
Chloé J Arthuis, Mathilde Nizon, Martin Kömhoff, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2018
Familial autosomal dominant severe ankyloglossia with tooth abnormalities
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability
Julien Thevenon, Caroline Michot, Christine Bole, et al.
Journal of Neuropathology and Experimental Neurology
|
November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region
Jean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
American Journal of Medical Genetics. Part A
|
March 20, 2019
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA
Solène Conrad, Florence Demurger, Kamran Moradkhani, et al.
Mitochondrion
|
January 28, 2014
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency
Mathilde Nizon, Audrey Boutron, Nathalie Boddaert, et al.
Nature Communications
|
May 9, 2020
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation
Aline Gaub, Bilal N Sheikh, M Felicia Basilicata, et al.
International Journal of Molecular Sciences
|
April 3, 2021
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
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of 12
Search research articles
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Showing results (11-20 of 120) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patients
Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology
|
June 13, 2018
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant
Chloé J Arthuis, Mathilde Nizon, Martin Kömhoff, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2018
Familial autosomal dominant severe ankyloglossia with tooth abnormalities
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability
Julien Thevenon, Caroline Michot, Christine Bole, et al.
Journal of Neuropathology and Experimental Neurology
|
November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region
Jean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
American Journal of Medical Genetics. Part A
|
March 20, 2019
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA
Solène Conrad, Florence Demurger, Kamran Moradkhani, et al.
Mitochondrion
|
January 28, 2014
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency
Mathilde Nizon, Audrey Boutron, Nathalie Boddaert, et al.
Nature Communications
|
May 9, 2020
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation
Aline Gaub, Bilal N Sheikh, M Felicia Basilicata, et al.
International Journal of Molecular Sciences
|
April 3, 2021
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Page
of 12