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「"El-Hattab AW "[Author]」の検索結果

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Carnitine Inborn Errors of Metabolism.

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

ATP13A2-related juvenile-onset Parkinson disease.

Extra-muscular manifestations of TK2 deficiency.

Mitochondrial DNA replication: clinical syndromes.

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

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