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JAMA Dermatology
|
August 4, 2016
Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood
Béatrice Vergier, Elodie Laharanne, Martina Prochazkova-Carlotti, et al.
American Journal of Human Genetics
|
March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Blood
|
July 8, 2015
A mutation in the Gardos channel is associated with hereditary xerocytosis
Raphael Rapetti-Mauss, Caroline Lacoste, Véronique Picard, et al.
European Journal of Medical Genetics
|
August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
Clothilde Estève, Céline Roman, Cécile DeLeusse, et al.
British Journal of Haematology
|
April 2, 2023
Efficacy and safety of nilotinib in chronic myeloid leukaemia patients who failed to achieve a treatment-free remission period after imatinib discontinuation: Results of the French Nilo post-STIM study
Stéphanie Dulucq, Françoise Rigal-Huguet, Franck E Nicolini, et al.
American Journal of Hematology
|
May 29, 2015
Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
Charles Herbaux, Nicolas Duployez, Catherine Badens, et al.
Neurobiology of Disease
|
May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi, Jérôme J Devaux, Florence Molinari, et al.
European Journal of Medical Genetics
|
January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Epilepsia
|
April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures
Julien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
Orphanet Journal of Rare Diseases
|
May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 37) with videos related to
Sort By:
Page
of 4
JAMA Dermatology
|
August 4, 2016
Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood
Béatrice Vergier, Elodie Laharanne, Martina Prochazkova-Carlotti, et al.
American Journal of Human Genetics
|
March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Blood
|
July 8, 2015
A mutation in the Gardos channel is associated with hereditary xerocytosis
Raphael Rapetti-Mauss, Caroline Lacoste, Véronique Picard, et al.
European Journal of Medical Genetics
|
August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
Clothilde Estève, Céline Roman, Cécile DeLeusse, et al.
British Journal of Haematology
|
April 2, 2023
Efficacy and safety of nilotinib in chronic myeloid leukaemia patients who failed to achieve a treatment-free remission period after imatinib discontinuation: Results of the French Nilo post-STIM study
Stéphanie Dulucq, Françoise Rigal-Huguet, Franck E Nicolini, et al.
American Journal of Hematology
|
May 29, 2015
Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
Charles Herbaux, Nicolas Duployez, Catherine Badens, et al.
Neurobiology of Disease
|
May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi, Jérôme J Devaux, Florence Molinari, et al.
European Journal of Medical Genetics
|
January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Epilepsia
|
April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures
Julien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
Orphanet Journal of Rare Diseases
|
May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Page
of 4