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Your search keyword '"Mohammad K. Eldomery"' showing total 19 results

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19 results on '"Mohammad K. Eldomery"'

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1. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

2. Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity

3. Pineal teratoma with nephroblastic component in a newborn male: Case report and review of the literature

4. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

5. Clinical and molecular features of pediatric cancer patients with Lynch syndrome

6. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

7. Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

8. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

9. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

10. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

11. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

12. Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

13. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

14. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

15. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

16. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

17. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

18. Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism

19. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

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