436 results on '"Birk, Ohad"'
Search Results
52. A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
53. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
54. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
55. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
56. A novel leaky splice variant in centromere protein J ( CENPJ )‐associated Seckel syndrome
57. Web and Social Media Searches Highlight Menstrual Irregularities as a Global Concern in COVID-19 Vaccinations
58. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
59. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
60. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay
61. Vaccination Against Autoimmune Mouse Diabetes with a T-Cell Epitope of the Human 65-kDa Heat Shock Protein
62. PSMC1 variant causes a novel neurological syndrome.
63. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation
64. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII
65. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy
66. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
67. Maternally inherited birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
68. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
69. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
70. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/akt pathway
71. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes [PIPKI.sub.[gamma]] of the phophatidylinsitol pathway
72. PLA2G6 mutation underlines infantile neuroaxonal dystrophy
73. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
74. A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta
75. Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc
76. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
77. Integration of SNP genotyping confidence scores in IBD inference
78. Selenocysteinopathies: progressive cerebello-cerebral atrophy and other diseases of the 21st amino acid, selenocysteine
79. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
80. Absence of SCAPER causes male infertility in humans andDrosophilaby modulating microtubule dynamics during meiosis
81. Phenotypic variability and mutation hotspot inCOX15‐related Leigh syndrome
82. B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature
83. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
84. The LIM homeobox gene Lhx9 is essential for mouse gonad formation
85. Syndrome to Gene (S2G): In-Silico Identification of Candidate Genes for Human Diseases
86. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
87. Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients
88. Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients
89. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
90. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome
91. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
92. Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation
93. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
94. TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation
95. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
96. CSI-OMIM - Clinical Synopsis Search in OMIM
97. SEC31A mutation affects ER homeostasis, causing a neurological syndrome
98. Nocturnal Atrial Fibrillation Caused by Mutation in KCND2 , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
99. Hsp60 Peptide Therapy of NOD Mouse Diabetes Induces a Th2 Cytokine Burst and Downregulates Autoimmunity to Various beta-Cell Antigens
100. Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.