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31 results on '"Sohal, Aman"'

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1. The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.

2. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

3. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

7. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

11. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

15. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

17. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

18. Suboptimal management of central nervous system infections in children: a multi-centre retrospective study

19. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

21. Why is this newborn not opening his eyes and mouth?

22. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

23. Rare etiology of severe calf pain and induration in a child with end-stage renal disease: Answers.

24. Speech and language delay in two children: an unusual presentation of hyperthyroidism.

25. Successful Treatment of Cytomegalovirus Polyradiculopathy in a 9-year-old Child With Congenital Human Immunodeficiency Virus Infection.

26. Clue to the diagnosis on chest X-ray in a child with neck swelling.

28. Sickle cell crisis: A crisis of a different sort?

29. Rare etiology of severe calf pain and induration in a child with end-stage renal disease: Questions.

30. A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy.

31. Anterior spinal artery syndrome in a girl with Down syndrome: case report and literature review.

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