Publikationen von H. H. Ropers
Alle Typen
Zeitschriftenartikel (205)
41.
Zeitschriftenartikel
92 (5), S. 681 - 695 (2013)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 42.
Zeitschriftenartikel
83 (5), S. 488 - 490 (2013)
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics: an international journal of genetics in medicine 43.
Zeitschriftenartikel
123 (5), S. 2244 - 2256 (2013)
CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. The Journal of Clinical Investigation 44.
Zeitschriftenartikel
5 (2), S. 5:11 - 5:11 (2013)
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 45.
Zeitschriftenartikel
83 (1), S. 92 - 95 (2013)
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). Clinical Genetics: an international journal of genetics in medicine 46.
Zeitschriftenartikel
123 (4), S. 589 - 601 (2012)
Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry: official journal of the International Society for Neurochemistry 47.
Zeitschriftenartikel
91 (4), S. 694 - 702 (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 48.
Zeitschriftenartikel
91 (1), S. 56 - 72 (2012)
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. The American Journal of Human Genetics 49.
Zeitschriftenartikel
3 (3), S. 229 - 236 (2012)
On the future of genetic risk assessment. Journal of Community Genetics 50.
Zeitschriftenartikel
90 (5), S. 847 - 855 (2012)
Mutations in NSUN2 cause autosomal-recessive intellectual disability. American Journal of Human Genetics 51.
Zeitschriftenartikel
155A (1), S. 203 - 6 (2011)
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A 52.
Zeitschriftenartikel
156 (2), S. 204 - 14 (2011)
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 53.
Zeitschriftenartikel
155A (8), S. 1976 - 80 (2011)
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A 54.
Zeitschriftenartikel
89 (3), S. 407 - 14 (2011)
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 55.
Zeitschriftenartikel
19 (6), S. 717 - 20 (2011)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 56.
Zeitschriftenartikel
19 (1), S. 115 - 7 (2011)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 57.
Zeitschriftenartikel
32 (12), S. 1427 - 35 (2011)
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 58.
Zeitschriftenartikel
129 (2), S. 141 - 8 (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 59.
Zeitschriftenartikel
16 (5), S. 491 - 503 (2011)
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 60.
Zeitschriftenartikel
478 (7367), S. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature