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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
Collaboration of breast cancer clinic and genetic counseling division for BRCA1 and BRCA2 mutation family in Japan.
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- Breast Cancer (13406868), 2004, v. 11, n. 1, p. 30, doi. 10.1007/BF02967998
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- Publication type:
- Article
Ras/MAPK syndromes and childhood hemato-oncological diseases.
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- 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
Rapid Detection of CYP2C18 Genotypes by Real-time Fluorescence Polymerase Chain Reaction.
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- Journal of Pharmacy & Pharmacology, 2000, v. 52, n. 2, p. 199, doi. 10.1211/0022357001773850
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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.
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- Pediatrics International, 2015, v. 57, n. 6, p. 1189, doi. 10.1111/ped.12713
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- Publication type:
- Article
Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.
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- Pediatrics International, 1994, v. 36, n. 3, p. 231, doi. 10.1111/j.1442-200X.1994.tb03169.x
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- Publication type:
- Article
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 259, doi. 10.1038/jhg.2013.9
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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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- Journal of Human Genetics, 1998, v. 43, n. 2, p. 135, doi. 10.1007/s100380050055
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- Publication type:
- Article
Mutations in PIGL in a patient with Mabry syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 777, doi. 10.1002/ajmg.a.36987
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- Publication type:
- Article
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 407, doi. 10.1002/ajmg.a.36842
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- Publication type:
- Article
A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2600, doi. 10.1002/ajmg.a.36107
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- Publication type:
- Article
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1083, doi. 10.1002/ajmg.a.35292
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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
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
- Published in:
- 2016
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- Publication type:
- journal 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.
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- 1992
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- Publication type:
- Case Study
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
Association of the GABRB3 Gene With Nonsyndromic Oral Clefts.
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- Cleft Palate Craniofacial Journal, 2008, v. 45, n. 3, p. 261, doi. 10.1597/06-142
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- Publication type:
- Article
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.
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- Journal of Diabetes Investigation, 2017, v. 8, n. 3, p. 286, doi. 10.1111/jdi.12586
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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
Recent studies on biological control of plant diseases in Japan.
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- Journal of General Plant Pathology, 2014, v. 80, n. 4, p. 287, doi. 10.1007/s10327-014-0524-4
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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
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
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
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
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
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
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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
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.
- Published in:
- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2623, doi. 10.1111/jcmm.13146
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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
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.
- Published in:
- Annals of Neurology, 2006, v. 60, n. 1, p. 148
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- Publication type:
- Article
Rapid diagnosis of glycine encephalopathy by 13C‐glycine breath test.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 5, p. 862, doi. 10.1002/ana.20853
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- Publication type:
- Article
Adult Alexander's disease without leukoencephalopathy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 5, p. 813
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 685
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- Publication type:
- Article
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 6, p. 779, doi. 10.1002/ana.10375
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- Publication type:
- Article
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 5, p. 643, doi. 10.1002/ana.10367
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- Publication type:
- Article
Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis.
- Published in:
- Digestive Diseases & Sciences, 2015, v. 60, n. 5, p. 1297, doi. 10.1007/s10620-014-3476-9
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- Publication type:
- Article
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 550, doi. 10.1002/mgg3.165
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- Publication type:
- Article