32 results on '"Soblet, Julie"'
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2. Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
3. A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal
4. Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype
5. Molecular basis of ClC-6 function and its impairment in human disease
6. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
7. #4917 AN EXOME-WIDE STUDY OF RENAL OPERATIONAL TOLERANCE
8. An exome-wide study of renal operational tolerance
9. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
10. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
11. Carbamazepine efficacy in a severe electro‐clinical presentation ofSLC13A5‐epilepsy
12. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects
13. A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
14. Common and specific effects of TIE2 mutations causing venous malformations
15. Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea
16. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
17. Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy.
18. New variant in deficiency of interleukin‐36 receptor antagonist syndrome (DITRA)
19. Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy
20. Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB
21. Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
22. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3
23. Three cases of molecularly confirmed Knobloch syndrome
24. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
25. Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men
26. HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
27. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.
28. BCL11Aframeshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
29. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
30. Homozygous p.R31H GNRH1mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
31. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK(TIE2) Mutations
32. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
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