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Publications by E.J. Cambray-Forker
Successful Diagnosis of HIBCH Deficiency From Exome Sequencing and Positive Retrospective Analysis of Newborn Screening Cards in Two Siblings Presenting With Leigh's Disease
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing
Journal of Medical Genetics
Genetics
Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing
PLoS ONE
Multidisciplinary
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
Exome Sequencing in Parkinson's Disease
Clinical Genetics
Genetics
Enzymologic Studies and Therapy of Leigh's Disease Associated With Pyruvate Decarboxylase Deficiency
Pediatric Research
Child Health
Pediatrics
Perinatology
Diagnosis by Sequencing: Correction of Misdiagnosis From FSHD2 to LGMD2A by Whole-Exome Analysis
European Journal of Human Genetics
Genetics
Deficiency of Muscle Cytochrome C Oxidase (Co) in Leigh's Disease
Pediatric Research
Child Health
Pediatrics
Perinatology
A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing
Andrology
Endocrinology
Reproductive Medicine
Urology
Metabolism
Diabetes
