J.M. Good

Discipline

Sociologie (1) Gestion et management (1) Anthropologie sociale et ethnologie (1)

Type de document

Articles (9) Recensions (1)

Co-auteur

Date

Source

Mot-clé

Human beings (5) maladie (4) maladie (4) analyse (3) adulte (3) Diseases (3) Phenotype (3) Epilepsy (3) Diseases (3) Analysis (3) adulte (3) femme (2) région (2) association (2) gène (2) enzyme (2) enfant (2) Identification (2) Cases (2) Genes (2) Women (2) Social groups (2) Signs and symbols (2) Signs and signboards (2) Patients (2) Liver (2) Identification (2) Children (2) Adulthood (2) Cases (2)

Documents écrit par J.M. Good (9) | parle de J.M. Good (0)

Syndrome des télomères courts chez l’adulte : une entité rare qu’il faut savoir évoquer [Short telomere syndrome in adults: a rare entity that should be evoked]
A. Coukos et al. (31 août 2022)
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
S. Galosi et al. (29 mars 2022)
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
I. Atallah et al. (2022)
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
E. Haro et al. (20 sept. 2021)
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
K.W. Gripp et al.
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
B. Royer-Bertrand et al.
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
J.M. Good et al. (6 mai 2021)
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
J.M. Good et al.
A draft sequence and preliminary analysis of the Neandertal genome
R.E. Green et al. (2010)