770 results on '"Ropers, Hans‐Hilger"'
Search Results
52. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
53. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues
54. High prevalence of SLC6A8 deficiency in X-linked mental retardation
55. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
56. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family
57. Identification of a New Gene Involved in IHH and Ataxia by Positional Cloning in a Patient with a Balanced Translocation t(3;12)(p13;p13)
58. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
59. Disruption of the serine/threonine kinase 9 gene causes severe x-linked infantile spasms and mental retardation
60. Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis
61. Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli
62. Classical and Molecular Cytogenetics of the Pufferfish Tetraodon Nigroviridis
63. Somatic Pairing Between Subtelomeric Chromosome Regions: Implications for Human Genetic Disease?
64. Novel GDI1 Mutation in a Large Family With Nonsyndromic X-Linked Intellectual Disability
65. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family
66. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects
67. A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q
68. Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients
69. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability
70. 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features
71. Common Pathological Mutations in PQBP1 Induce Nonsense-Mediated mRNA Decay and Enhance Exclusion of the Mutant Exon
72. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
73. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
74. A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
75. Dritter Gentechnologiebericht : Analyse einer Hochtechnologie
76. Rare diseases: human genome research is coming home.
77. Disruption of the TCF4 Gene in a Girl With Mental Retardation but Without the Classical Pitt-Hopkins Syndrome
78. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
79. Chromosome deletions in 13q33–34: Report of four patients and review of the literature
80. Characterization of interstitial Xp duplications in two families by tiling path array CGH
81. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
82. Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
83. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay
84. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)
85. Molecular Cytogenetic Analysis of a de novo Interstitial Chromosome 10q22 Deletion
86. A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
87. Novel JARID1C/SMCX Mutations in Patients With X-linked Mental Retardation
88. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
89. Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever
90. Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1
91. Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1
92. X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder
93. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation
94. Autosomal dominant and recessive osteochondrodysplasias associated with the COL 11A2 locus
95. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
96. Brief report: reverse mutation in myotonic dystrophy
97. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
98. A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
99. Cloning of a gene that is rearranged in patients with choroideraemia
100. Choroideremia
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