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European Journal of Human Genetics : EJHG
|
September 13, 2018
Reply to Sönmez et al
Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay
American Journal of Medical Genetics. Part A
|
July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
Pauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.
European Journal of Medical Genetics
|
December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 4, 2022
Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Human Mutation
|
July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Clinical Genetics
|
April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, et al.
Clinical Genetics
|
June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
Camille Bergès, Clément Sauvestre, Sophie Naudion, et al.
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Search research articles
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Showing results (1-10 of 14) with videos related to
Sort By:
Page
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European Journal of Human Genetics : EJHG
|
September 13, 2018
Reply to Sönmez et al
Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay
American Journal of Medical Genetics. Part A
|
July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
Pauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.
European Journal of Medical Genetics
|
December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 4, 2022
Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Human Mutation
|
July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Clinical Genetics
|
April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, et al.
Clinical Genetics
|
June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
Camille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Page
of 2