Found: 74
Select item for more details and to access through your institution.
Dravet Syndrome: A Rare Form of Epilepsy.
- Published in:
- Case Reports in Medicine, 2024, v. 2024, p. 1, doi. 10.1155/2024/6710512
- By:
- Publication type:
- Article
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 366, doi. 10.1007/s00439-002-0689-3
- By:
- Publication type:
- Article
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x
- By:
- Publication type:
- Article
UN BON CONSEIL GÉNÉTIQUE EST-IL CONCILIABLE AVEC UNE BONNE PRATIQUE ÉTHIQUE ?
- Published in:
- Lebanese Medical Journal, 2011, v. 59, n. 1, p. 23
- By:
- Publication type:
- Article
A New Familial Sclerosing Bone Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 3, p. 676, doi. 10.1359/jbmr.090733
- By:
- Publication type:
- Article
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3
- By:
- Publication type:
- Article
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 1, p. 81, doi. 10.1007/s10038-005-0320-2
- By:
- Publication type:
- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
- By:
- Publication type:
- Article
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 5, p. 767
- By:
- Publication type:
- Article
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1253, doi. 10.1038/ejhg.2013.24
- By:
- Publication type:
- Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402
- By:
- Publication type:
- Article
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0304-4
- By:
- Publication type:
- Article
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253
- By:
- Publication type:
- Article
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 4, p. 219, doi. 10.1159/000501114
- By:
- Publication type:
- Article
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465
- By:
- Publication type:
- Article
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1044, doi. 10.1038/ejhg.2012.41
- By:
- Publication type:
- Article
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 452, doi. 10.1038/ejhg.2010.212
- By:
- Publication type:
- Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
- By:
- Publication type:
- Article
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1076, doi. 10.1038/ejhg.2008.273
- By:
- Publication type:
- Article
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 122, doi. 10.1038/ejhg.2008.155
- By:
- Publication type:
- Article
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
- By:
- Publication type:
- Article
DNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 210, doi. 10.1038/sj.ejhg.5200780
- By:
- Publication type:
- Article
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725
- By:
- Publication type:
- Article
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704
- By:
- Publication type:
- Article
Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 123, n. 3, p. 589, doi. 10.1111/j.0022-202X.2004.23401.x
- By:
- Publication type:
- Article
Collaborative genomics for human health and cooperation in the Mediterranean region.
- Published in:
- Nature Genetics, 2010, v. 42, n. 8, p. 641, doi. 10.1038/ng0810-641
- By:
- Publication type:
- Article
Identification of mutations in CUL7 in 3-M syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1119, doi. 10.1038/ng1628
- By:
- Publication type:
- Article
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 221, doi. 10.1038/ng1517
- By:
- Publication type:
- Article
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
- Published in:
- European Journal of Endocrinology, 2013, v. 167, n. 1, p. K1, doi. 10.1530/EJE-12-0701
- By:
- Publication type:
- Article
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311
- By:
- Publication type:
- Article
Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66469-w
- By:
- Publication type:
- Article
DNA methylation profiling in Trisomy 21 females with and without breast cancer.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1203483
- By:
- Publication type:
- Article
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.
- Published in:
- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/8795607
- By:
- Publication type:
- Article
Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019464
- By:
- Publication type:
- Article
Identification of the gene altered in Berardinelli?Seip congenital lipodystrophy on chromosome 11q13.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 365
- By:
- Publication type:
- Article
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
- Published in:
- Electrophoresis, 2018, v. 39, n. 24, p. 3123, doi. 10.1002/elps.201800021
- By:
- Publication type:
- Article
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0474-y
- By:
- Publication type:
- Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-56
- By:
- Publication type:
- Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110
- By:
- Publication type:
- Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 29, doi. 10.1186/1750-1172-6-29
- By:
- Publication type:
- Article
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938
- By:
- Publication type:
- Article
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 880, doi. 10.1002/ajmg.a.33879
- By:
- Publication type:
- Article
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1
- By:
- Publication type:
- Article
Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. E194, doi. 10.1002/humu.20836
- By:
- Publication type:
- Article
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U
- By:
- Publication type:
- Article
Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.
- Published in:
- Journal of Medical Screening, 2006, v. 13, n. 1, p. 26, doi. 10.1258/096914106776179827
- By:
- Publication type:
- Article
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0149-0
- By:
- Publication type:
- Article