Found: 106
Select item for more details and to access through your institution.
EXPRESSION AND POST-TRANSLATIONAL MODIFICATION OF HUMAN 4-HYDROXY-PHENYLPYRUVATE DIOXYGENASE
- Published in:
- Cell Biology International, 2002, v. 26, n. 7, p. 615, doi. 10.1006/cbir.2002.0896
- By:
- Publication type:
- Article
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2173, doi. 10.1007/s10072-023-06735-7
- By:
- Publication type:
- Article
Identification of human candidate genes for male infertility by digital differential display.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 1, doi. 10.1093/molehr/7.1.11
- By:
- Publication type:
- Article
Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 5, p. 231, doi. 10.1111/j.1399-0004.1995.tb04302.x
- By:
- Publication type:
- Article
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 12, p. e203, doi. 10.1111/epi.13222
- By:
- Publication type:
- Article
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 12, p. 2017, doi. 10.1111/epi.12839
- By:
- Publication type:
- Article
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 2, p. 256, doi. 10.1111/epi.12078
- By:
- Publication type:
- Article
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 12, p. e190, doi. 10.1111/j.1528-1167.2011.03304.x
- By:
- Publication type:
- Article
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1091, doi. 10.1111/j.1528-1167.2008.01550.x
- By:
- Publication type:
- Article
Chromothripsis and DNA Repair Disorders.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 613, doi. 10.3390/jcm9030613
- By:
- Publication type:
- Article
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18040-y
- By:
- Publication type:
- Article
Sequence and expression analysis of gaps in human chromosome 20.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 14, p. 6660, doi. 10.1093/nar/gks302
- By:
- Publication type:
- Article
Erratum: Sequence analysis of 17 NRXN1 deletions.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 3, p. 261, doi. 10.1002/ajmg.b.32226
- By:
- Publication type:
- Article
Sequence analysis of 17 NRXN1 deletions.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 1, p. 52, doi. 10.1002/ajmg.b.32204
- By:
- Publication type:
- Article
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 3, p. 354, doi. 10.1002/ajmg.b.32036
- By:
- Publication type:
- Article
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 720, doi. 10.1002/ajmg.a.35214
- By:
- Publication type:
- Article
A human phenome-interactome network of protein complexes implicated in genetic disorders.
- Published in:
- Nature Biotechnology, 2007, v. 25, n. 3, p. 309, doi. 10.1038/nbt1295
- By:
- Publication type:
- Article
GLI1 Is Involved in Cell Cycle Regulation and Proliferation of NT2 Embryonal Carcinoma Stem Cells.
- Published in:
- DNA & Cell Biology, 2008, v. 27, n. 5, p. 251, doi. 10.1089/dna.2007.0625
- By:
- Publication type:
- Article
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0292-4
- By:
- Publication type:
- Article
High resolution chromosomes from first trimester trophoblast cultures.
- Published in:
- Prenatal Diagnosis, 1985, v. 5, n. 4, p. 291, doi. 10.1002/pd.1970050408
- By:
- Publication type:
- Article
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium.
- Published in:
- Prenatal Diagnosis, 1983, v. 3, n. 4, p. 367, doi. 10.1002/pd.1970030417
- By:
- Publication type:
- Article
The Genetic Basis of the Pierre Robin Sequence.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 2, p. 155, doi. 10.1597/05-008.1
- By:
- Publication type:
- Article
Genetic Association Studies in Lumbar Disc Degeneration: A Systematic Review.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049995
- By:
- Publication type:
- Article
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009231
- By:
- Publication type:
- Article
Abdominal Wall Defects in Greenland 1989--2015.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 11, p. 836, doi. 10.1002/bdr2.1025
- By:
- Publication type:
- Article
Phenotypic subregions within the split-hand/foot malformation 1 locus.
- Published in:
- Human Genetics, 2016, v. 135, n. 3, p. 345, doi. 10.1007/s00439-016-1635-0
- By:
- Publication type:
- Article
Mutations in autism susceptibility candidate 2 ( AUTS2) in patients with mental retardation.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 501, doi. 10.1007/s00439-006-0284-0
- By:
- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
- By:
- Publication type:
- Article
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 536, doi. 10.1007/s00439-005-1310-3
- By:
- Publication type:
- Article
Mutational analysis of the human FATE gene in 144 infertile men.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 195, doi. 10.1007/s00439-003-0974-9
- By:
- Publication type:
- Article
Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability.
- Published in:
- European Journal of Oral Sciences, 1999, v. 107, n. 2, p. 138, doi. 10.1046/j.0909-8836.1999.eos107210.x
- By:
- Publication type:
- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54
- By:
- Publication type:
- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131
- By:
- Publication type:
- Article
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1290, doi. 10.1038/ejhg.2014.21
- By:
- Publication type:
- Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
- By:
- Publication type:
- Article
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 338, doi. 10.1038/ejhg.2013.147
- By:
- Publication type:
- Article
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1315, doi. 10.1038/ejhg.2012.92
- By:
- Publication type:
- Article
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 119, doi. 10.1038/ejhg.2011.140
- By:
- Publication type:
- Article
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.149
- By:
- Publication type:
- Article
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 733, doi. 10.1038/ejhg.2009.225
- By:
- Publication type:
- Article
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1010, doi. 10.1038/ejhg.2008.269
- By:
- Publication type:
- Article
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
- By:
- Publication type:
- Article
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 711, doi. 10.1038/sj.ejhg.5201824
- By:
- Publication type:
- Article
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 410, doi. 10.1038/sj.ejhg.5201592
- By:
- Publication type:
- Article
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429
- By:
- Publication type:
- Article
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200645
- By:
- Publication type:
- Article
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 178, doi. 10.1038/sj.ejhg.5200600
- By:
- Publication type:
- Article
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 661, doi. 10.1038/sj.ejhg.5200512
- By:
- Publication type:
- Article
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 68, doi. 10.1038/sj.ejhg.5200260
- By:
- Publication type:
- Article
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
- Published in:
- 2024
- By:
- Publication type:
- Case Study