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「"El-Hattab AW "[Author]」の検索結果

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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.

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Approach to Inborn Errors of Metabolism in Pediatrics.

Newborn Screening: History, Current Status, and Future Directions.

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