22 results on '"Tawamie, Hasan"'
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2. Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
3. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
4. Author response for 'Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities'
5. BiallelicZNFX1variants are associated with a spectrum of immuno‐hematological abnormalities
6. Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability
7. Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
8. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
9. Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities.
10. Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly
11. Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
12. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
13. Identifizierung und Charakterisierung von Kandidatengenen bei Individuen mit autosomal rezessiver mentaler Retardierung
14. Additional file 1: Table S1. of SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
15. A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
16. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation
17. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
18. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
19. Recurrent null mutation in SPG20 leads to Troyer syndrome
20. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
21. Author response: TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
22. Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
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