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Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma.
- Published in:
- Human Genetics, 2004, v. 115, n. 4, p. 295, doi. 10.1007/s00439-004-1157-z
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- Publication type:
- Article
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 298, doi. 10.1007/s004390051041
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- Publication type:
- Article
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 259, doi. 10.1038/jhg.2013.9
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- Publication type:
- Article
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α‐human papillomavirus infection in the evolving verruca.
- Published in:
- International Journal of Dermatology, 2020, v. 59, n. 9, p. e334, doi. 10.1111/ijd.14883
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- Publication type:
- Article
Mutation (variation) databases and registries: a rationale for coordination of efforts.
- Published in:
- 2011
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- Publication type:
- letter
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1383176
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- Publication type:
- Article
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 34, doi. 10.1038/jhg.2010.132
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- Publication type:
- Article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
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- Publication type:
- Article
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 1, p. 48, doi. 10.1007/s10038-006-0077-2
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- Publication type:
- Article
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 5, p. 455, doi. 10.1007/s10038-006-0384-7
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- Publication type:
- Article
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 5, p. 230, doi. 10.1007/s10038-005-0243-y
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- Publication type:
- Article
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 4, p. 192, doi. 10.1007/s10038-005-0239-7
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- Publication type:
- Article
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 12, p. 622, doi. 10.1007/s10038-003-0089-0
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- Publication type:
- Article
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 5, p. 312, doi. 10.1007/s100380050167
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- Publication type:
- Article
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 128, doi. 10.1007/s100380050053
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- Publication type:
- Article
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 135, doi. 10.1007/s100380050055
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- Publication type:
- Article
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6553, doi. 10.1093/hmg/ddu376
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- Publication type:
- Article
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
- Published in:
- 2019
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- Publication type:
- journal article
Rapid Detection of CYP2C18 Genotypes by Real-time Fluorescence Polymerase Chain Reaction.
- Published in:
- Journal of Pharmacy & Pharmacology, 2000, v. 52, n. 2, p. 199, doi. 10.1211/0022357001773850
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- Publication type:
- Article
Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing.
- Published in:
- Hepatology Research, 2014, v. 44, n. 6, p. 678, doi. 10.1111/hepr.12168
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- Publication type:
- Article
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
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- Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
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- Publication type:
- Article
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1038, doi. 10.1038/ng1641
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- Publication type:
- Article
Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screening.
- Published in:
- 2004
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- Publication type:
- journal article
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 212, doi. 10.1159/000436965
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- Publication type:
- Article
Pixel-wise parallel calculation for depth from focus with adaptive focus measure.
- Published in:
- Multidimensional Systems & Signal Processing, 2022, v. 33, n. 1, p. 121, doi. 10.1007/s11045-021-00794-9
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- Publication type:
- Article
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 717, doi. 10.1002/(SICI)1097-0223(199908)19:8<717::AID-PD625>3.0.CO;2-L
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- Publication type:
- Article
Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR.
- Published in:
- 1992
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- Publication type:
- case study
Electrophysiological and Histopathological Characteristics of Progressive Atrioventricular Block Accompanied by Familial Dilated Cardiomyopathy Caused by a Novel Mutation of Lamin A/C Gene.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2005, v. 16, n. 2, p. 137, doi. 10.1046/j.1540-8167.2004.40096.x
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- Publication type:
- Article
<i>TBX1</i> Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091598
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- Publication type:
- Article
Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality.
- Published in:
- 2018
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- Publication type:
- case study
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 21, doi. 10.1007/s00439-018-1951-7
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- Publication type:
- Article
Guide for diagnosis and treatment of hyperphenylalaninemia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 1, p. 8, doi. 10.1111/ped.14399
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- Publication type:
- Article
First Japanese case of Zellweger syndrome with a mutation in PEX14.
- Published in:
- Pediatrics International, 2015, v. 57, n. 6, p. 1189, doi. 10.1111/ped.12713
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- Publication type:
- Article
A Case of Almost Unilateral Focal Dermal Hypoplasia Resulting From a Novel Mutation in the PORCN Gene.
- Published in:
- 2013
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- Publication type:
- Letter
Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0526-3
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- Publication type:
- Article
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
- Published in:
- 2016
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- Publication type:
- journal article
Association of the GABRB3 Gene With Nonsyndromic Oral Clefts.
- Published in:
- Cleft Palate Craniofacial Journal, 2008, v. 45, n. 3, p. 261, doi. 10.1597/06-142
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- Publication type:
- Article
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 548, doi. 10.1007/s00431-003-1227-6
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- Publication type:
- Article
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2529, doi. 10.1002/ajmg.a.34194
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- Publication type:
- Article
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 192, doi. 10.1002/ajmg.a.33764
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- Publication type:
- Article
Ras/MAPK syndromes and childhood hemato-oncological diseases.
- Published in:
- International Journal of Hematology, 2013, v. 97, n. 1, p. 30, doi. 10.1007/s12185-012-1239-y
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- Publication type:
- Article
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
- Published in:
- 2008
- By:
- Publication type:
- Other
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 343, doi. 10.1002/humu.20293
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- Publication type:
- Article
Mutations in the holocarboxylase synthetase gene HLCS.
- Published in:
- 2005
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- Publication type:
- Other
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip (Communicated by Jan P. Kraus).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247
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- Publication type:
- Article
Detection of single nucleotide substitution by competitive allele?specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripCommunicated by Jan P. Kraus.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247
- By:
- Publication type:
- Article
Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Mutation, 2000, v. 15, n. 2, p. 189, doi. 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H
- By:
- Publication type:
- Article
Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 341, doi. 10.1002/(SICI)1098-1004(1999)13:4<341::AID-HUMU22>3.0.CO;2-V
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- Publication type:
- Article
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
- By:
- Publication type:
- Article
KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes.
- Published in:
- Pediatric Diabetes, 2019, v. 20, n. 6, p. 712, doi. 10.1111/pedi.12868
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- Publication type:
- Article