1,471 results on '"Tommerup, Niels"'
Search Results
52. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
53. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
54. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
55. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
56. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes
57. Chromothripsis and DNA Repair Disorders
58. Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
59. Regional differences in expression of specific markers for human embryonic stem cells
60. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
61. Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans
62. Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients
63. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
64. Mutational analysis of the human FATE gene in 144 infertile men
65. Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma
66. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
67. Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
68. General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses
69. Disruption of the serine/threonine kinase 9 gene causes severe x-linked infantile spasms and mental retardation
70. Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA
71. Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro
72. Sequence and expression analysis of gaps in human chromosome 20
73. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
74. Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1
75. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
76. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
77. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip
78. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects
79. Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in theLMX1BGene
80. Chromothripsis and DNA Repair Disorders
81. A neocentromere on human chromosome 3 without detectable α-satellite DNA forms morphologically normal kinetochores
82. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
83. Autoimmune diseases in women with Turnerʼs Syndrome
84. Ancient human genome sequence of an extinct Palaeo-Eskimo
85. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
86. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
87. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression
88. Stones in the lacrimal gland: a rare condition
89. Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24
90. A novel subtype of distal symphalangism affecting only the 4th finger
91. 9q Subtelomeric Deletion Syndrome With Diaphragmatic Hernia
92. Compound Heterozygous ASPM Mutations in Pakistani MCPH Families
93. A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
94. A cryptic unbalanced translocation resulting in del 13q and dup 15q
95. A Novel Mutation in IRF6 Resulting in VWS-PPS Spectrum Disorder With Renal Aplasia
96. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
97. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms
98. A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
99. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
100. Non-disjunction of chromosome 13
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