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Publications by Jorgina Satrustegui

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

Related publications

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics

English

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

American Journal of Human Genetics

English

Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24

American Journal of Medical Genetics, Part A

English

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Neuropediatrics

English

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

American Journal of Human Genetics

English

SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

Nature Communications

Molecular Biology

English

De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

English