絞り込み

16636

広告

「"El-Hattab AW "[Author]」の検索結果

96件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

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.

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.

  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
Sort by
※並べ替えは表示に時間がかかります