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Your search keyword '"Elloumi, Houda"' showing total 15 results

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15 results on '"Elloumi, Houda"'

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1. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

2. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

3. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

4. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

5. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

6. The commercial genetic testing landscape for Parkinson's disease

7. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

12. A Novel Autosomal-dominant Late-onset Immunodeficiency with Susceptibility to Mycobacteria, Fungi, Papillomavirus and Myeloid Malignancies

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