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Publications by Elbarbary N
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Yearbook of Paediatric Endocrinology
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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
Benign, Recessively Inherited Choreo-Athetosis of Early Onset.
Journal of Medical Genetics
Genetics
Glucokinase Gene Mutations Are Not a Common Cause of Permanent Neonatal Diabetes in France
Diabetologia
Internal Medicine
Endocrinology
Metabolism
Diabetes
NaV1.4 Loss of Function Changes for Recessively Inherited Myopathy With Fluctuating Weakness
Biophysical Journal
Biophysics
Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies
Diabetes Care
Internal Medicine
Endocrinology
Advanced
Metabolism
Specialized Nursing
Diabetes
A New Compound Heterozygosis for Inactivating Mutations in the Glucokinase Gene as Cause of Permanent Neonatal Diabetes Mellitus (PNDM) in Double-First Cousins
Diabetology and Metabolic Syndrome
Internal Medicine
Endocrinology
Metabolism
Diabetes
Mucolipidosis II Presenting as Severe Neonatal Hyperparathyroidism
European Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Two Missense Mutations in KCNQ1 Cause Pituitary Hormone Deficiency and Maternally Inherited Gingival Fibromatosis
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Two Neonatal Diabetes Cases With Different Mutations and Treatments
Endocrine Abstracts
