367 results on '"Temtamy, Samia"'
Search Results
52. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
53. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
54. Mutaciones en FAM46A en un paciente con osteogénesis imperfecta
55. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
56. The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years
57. Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
58. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
59. Expanding the phenome and variome of skeletal dysplasia
60. GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva
61. Brachydactyly
62. Minimal residual disease after allogeneic bone marrow transplantation for chronic myeloid leukaemia: a metaphase-FISH study
63. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
64. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
65. The Coffin-Lowry Syndrome: An Inherited Faciodigital Mental Retardation Syndrome
66. Extending the Scope of the VATER Association: Definition of the VATER Syndrome
67. Phenotypic and molecular insights into PQBP1 -related intellectual disability
68. Biomarqueurs Cytogénétiques et Déterminant Environnemental pour la Détection Précoce de la Maladie d’Alzheimer
69. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
70. Biallelic truncating variants in MAPKAPK5cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
71. Familial Leydig Cell Hypoplasia as a Cause of Male Pseudohermaphroditism
72. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
73. AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges
74. AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta
75. The scope of orodental genetics
76. Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child
77. Molecular and clinical analysis ofALPLin a cohort of patients with suspicion of Hypophosphatasia
78. Genetics and Genomic Medicine in Egypt: steady pace
79. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
80. Mutaciones de 'splicing' en un nuevo gen ciliar como causa del síndrome de Ellis-van Creveld
81. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management.
82. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification.
83. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
84. A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome.
85. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion.
86. Chapter 19 - BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta
87. Chapter 18 - OSX/SP7 Mutations and Osteogenesis Imperfecta
88. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
89. Screening for parental mitotic nondisjunction as a cause of fetal aneuploidy.
90. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations
91. Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation
92. Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis
93. OSX/SP7 mutations and osteogenesis imperfecta
94. BMP1 mutations in autosomal recessive osteogenesis imperfecta
95. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
96. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
97. Teebi Ahmed S. Farag Talaat I. Genetic Disorders among Arab Populations
98. Environmental risk factors in isolated limb reduction defects
99. Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum
100. Report of a newly indentified patient with mutations inBMP1and underlying pathogenetic aspects
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