986 results on '"Elpeleg, Orly"'
Search Results
2. Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
3. Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
4. Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
5. A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
6. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
7. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
8. Exome sequencing for structurally normal fetuses—yields and ethical issues
9. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
10. Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
11. Orbital nodular fasciitis in child with biallelic germline RBL2 variant
12. Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis
13. A mutation in POLR3E impairs antiviral immune response and RNA polymerase III
14. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
15. Nociception and pain in humans lacking a functional TRPV1 channel
16. Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
17. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
18. A human case of GIMAP6 deficiency: a novel primary immune deficiency
19. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
20. Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy
21. Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
22. Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation
23. Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder
24. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease
25. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
26. A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
27. Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria.
28. Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
29. Intellectual disability syndrome associated with a homozygous founder variant inSGSM3in Ashkenazi Jews
30. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
31. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease
32. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
33. Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
34. Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
35. A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy
36. Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
37. De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
38. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
39. Reader response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
40. Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
41. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
42. Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients
43. T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
44. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
45. Biallelic loss of function variants inWBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
46. Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
47. An Ashkenazi founder mutation in the PKHD1 gene
48. Deep intronic mis-splicing mutation in JAK3 gene underlies T − B + NK − severe combined immunodeficiency phenotype
49. Intellectual disability syndrome associated with a homozygous founder variant in SGSM3in Ashkenazi Jews
50. Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
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