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Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 7, p. 688, doi. 10.1093/molehr/8.7.688
- By:
- Publication type:
- Article
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 5, p. 489, doi. 10.1093/molehr/7.5.489
- By:
- Publication type:
- Article
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809569
- By:
- Publication type:
- Article
Genetic homogeneity of the Camurati–Engelmann disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x
- By:
- Publication type:
- Article
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 12, doi. 10.1111/j.1399-0004.1997.tb02508.x
- By:
- Publication type:
- Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. e59, doi. 10.1093/brain/awad054
- By:
- Publication type:
- Article
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
- Published in:
- 2019
- By:
- Publication type:
- Letter
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Epileptic phenotypes in children with respiratory chain disorders.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1225, doi. 10.1111/j.1528-1167.2009.02504.x
- By:
- Publication type:
- Article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 765, doi. 10.1172/JCI29089
- By:
- Publication type:
- Article
Early Grade Repetition and Inattention Associated With Neurofibromatosis Type 1.
- Published in:
- Journal of Attention Disorders, 2007, v. 11, n. 2, p. 101, doi. 10.1177/1087054707299398
- By:
- Publication type:
- Article
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 2, p. 445, doi. 10.3390/life13020445
- By:
- Publication type:
- Article
The CLDN5 gene at the blood-brain barrier in health and disease.
- Published in:
- Fluids & Barriers of the CNS, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12987-023-00424-5
- By:
- Publication type:
- Article
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
- By:
- Publication type:
- Article
Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus.
- Published in:
- Journal of Nucleic Acids, 2013, p. 1, doi. 10.1155/2013/567435
- By:
- Publication type:
- Article
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2274, doi. 10.1002/ajmg.a.63335
- By:
- Publication type:
- Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
- By:
- Publication type:
- Article
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1850, doi. 10.1002/ajmg.a.36505
- By:
- Publication type:
- Article
Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1370, doi. 10.1002/ajmg.a.35307
- By:
- Publication type:
- Article
IMPAD1 mutations in two Catel-Manzke like patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
- By:
- Publication type:
- Article
Notre Axel, noyau dur de la Path Mol.
- Published in:
- 2021
- By:
- Publication type:
- Obituary
Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.
- Published in:
- Médecine Sciences, 2019, v. 35, n. 11, p. 843, doi. 10.1051/medsci/2019170
- By:
- Publication type:
- Article
Dépistage néonatal de la drépanocytose: Des données en faveur de sa généralisation.
- Published in:
- Médecine Sciences, 2018, v. 34, n. 4, p. 309, doi. 10.1051/medsci/20183404010
- By:
- Publication type:
- Article
Éditorial.
- Published in:
- Médecine Sciences, 2016, v. 32, n. 10, p. 795, doi. 10.1051/medsci/20163210001
- By:
- Publication type:
- Article
Les avancées de la génétique : quels bénéfices pour les patients ?
- Published in:
- Médecine Sciences, 2015, v. 31, p. 899, doi. 10.1051/medsci/20052111899
- By:
- Publication type:
- Article
Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle.
- Published in:
- Médecine Sciences, 2012, v. 28, n. 2, p. 128, doi. 10.1051/medsci/2012282003
- By:
- Publication type:
- Article
Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 4, p. 416, doi. 10.1684/abc.2018.1354
- By:
- Publication type:
- Article
EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses.
- Published in:
- Journal of Bone & Mineral Research, 2000, v. 15, n. 8, p. 1489, doi. 10.1359/jbmr.2000.15.8.1489
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- Publication type:
- Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
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- Publication type:
- Article
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
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- Publication type:
- Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 975, doi. 10.1038/ng.2357
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- Publication type:
- Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
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- Publication type:
- Article
Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
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- Publication type:
- Article
Casting an eye on the Krebs cycle.
- Published in:
- Nature Genetics, 2008, v. 40, n. 10, p. 1148, doi. 10.1038/ng1008-1148
- By:
- Publication type:
- Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
- By:
- Publication type:
- Article
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66
- By:
- Publication type:
- Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2007, v. 39, n. 6, p. 776, doi. 10.1038/ng2040
- By:
- Publication type:
- Article
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993
- By:
- Publication type:
- Article
Mutation in myosin heavy chain 6 causes atrial septal defect.
- Published in:
- Nature Genetics, 2005, v. 37, n. 4, p. 423, doi. 10.1038/ng1526
- By:
- Publication type:
- Article
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 459, doi. 10.1038/ng1130
- By:
- Publication type:
- Article
Segregation at three loci explains familial and population risk in Hirschsprung disease.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 89, doi. 10.1038/ng868
- By:
- Publication type:
- Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
- By:
- Publication type:
- Article
Mutant WD-repeat protein in triple-A syndrome.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 332, doi. 10.1038/81642
- By:
- Publication type:
- Article
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
- Published in:
- BMC Biochemistry, 2003, v. 4, p. 1
- By:
- Publication type:
- Article
PHOX2B gene mutation in a patient with late‐onset central hypoventilation.
- Published in:
- Pediatric Pulmonology, 2004, v. 38, n. 4, p. 349, doi. 10.1002/ppul.20074
- By:
- Publication type:
- Article
Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 81, doi. 10.1002/pd.496
- By:
- Publication type:
- Article
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
- Published in:
- 2001
- By:
- Publication type:
- journal article