561 results on '"Faqeih, Eissa"'
Search Results
52. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
53. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
54. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
55. Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
56. Correction to: Expanding the genetic heterogeneity of intellectual disability
57. Expanding the genetic heterogeneity of intellectual disability
58. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
59. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
60. Genetic Insights from Consanguineous Cardiomyopathy Families
61. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
62. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure
63. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
64. A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
65. Familial pseudotail, scoliosis and synpolydactyly syndrome
66. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
67. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
68. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
69. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
70. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype
71. Molecular and clinical spectra of FBXL4 deficiency
72. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder
73. Congenital disorders of glycosylation: The Saudi experience
74. The clinical utility of rapid exome sequencing in a consanguineous population.
75. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
76. 3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature
77. Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome
78. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
79. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
80. Novel copy number variants and major limb reduction malformation: Report of three cases
81. Crisponi/CISS1 syndrome: A case series
82. ADAT3-related intellectual disability: Further delineation of the phenotype
83. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
84. Identification of a novel MKS locus defined by TMEM107 mutation
85. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
86. A novel APC mutation defines a second locus for Cenani–Lenz syndrome
87. Novel STAMBP mutation and additional findings in an Arabic family
88. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
89. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
90. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)
91. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
92. Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5
93. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
94. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency:A rare and potentially fatal metabolic disease
95. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
96. The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
97. The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings
98. MO039IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS
99. Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy
100. A truncating mutation in B3GNT1 causes severe Walker–Warburg 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.