| 1 |
28691394 | A new HLA-A allele, HLA-A*30:62, sequenced in a Chinese individual. | 2017 Oct |
1 |
| 2 |
24883016 | Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma. | 2014 |
1 |
| 3 |
23295288 | A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. | 2012 Nov |
1 |
| 4 |
21029261 | Lack of modulatory function of coding nucleotide polymorphism S100A2_185G>A in oral squamous cell carcinoma. | 2011 Apr |
1 |
| 5 |
19793597 | Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency. | 2010 Feb |
1 |
| 6 |
20022356 | Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. | 2010 May |
1 |
| 7 |
20307995 | The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity. | 2010 Jun |
1 |
| 8 |
19140836 | Identification of the novel allele HLA-B*4076 by sequence-based typing in a Chinese individual. | 2009 Jan |
1 |
| 9 |
19778320 | Complete genomic sequence of a novel HLA-B*1325 allele observed in a Chinese Han individual. | 2009 Dec |
1 |
| 10 |
20046085 | Hemoglobin Yamagata: hemoglobin variant detected by HbA1c test. | 2009 Dec |
1 |
| 11 |
18764811 | A novel HLA-B*44 allele, HLA-B*4459, identified in a renal patient with aberrant B44 serology and characterized by sequence-based typing. | 2008 Nov |
1 |
| 12 |
17258903 | Role of D327N sex hormone-binding globulin gene polymorphism in the pathogenesis of polycystic ovary syndrome. | 2007 Apr |
1 |
| 13 |
17284220 | Characterization of a novel HLA-DRB1*04 allele (DRB1*0460) in the Italian population. | 2007 Feb |
1 |
| 14 |
17627757 | Identification of two novel HLA-DRB1*11 alleles (DRB1*110404 and DRB1*1161) in two Italian cord blood units. | 2007 Aug |
1 |
| 15 |
17680815 | Cytomorphologic signs of severe pernicious anemia obscured in a patient with heterozygous hemoglobin Stanleyville II. | 2007 Oct |
1 |
| 16 |
15634267 | Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. | 2005 Jan |
2 |
| 17 |
15701688 | Structural mechanism for ubiquitinated-cargo recognition by the Golgi-localized, gamma-ear-containing, ADP-ribosylation-factor-binding proteins. | 2005 Feb 15 |
1 |
| 18 |
16144923 | ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/5-fluorouracil combination chemotherapy in patients with advanced colorectal cancer. | 2005 Sep 1 |
1 |
| 19 |
14989719 | Identification of two new HLA-B alleles, HLA-B*0732 and HLA-B*5809, by sequence-based typing. | 2004 Mar |
1 |
| 20 |
15163335 | Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. | 2004 Jun |
1 |
| 21 |
15205742 | Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. | 2004 Sep |
2 |
| 22 |
15245427 | A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. | 2004 Aug |
1 |
| 23 |
12851728 | Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan. | 2003 Aug |
1 |
| 24 |
11712419 | [Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. | 2001 Nov |
1 |
| 25 |
10721670 | Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism. | 2000 |
1 |
| 26 |
11069038 | Frequent polymorphism in BCR exon b2 identified in BCR-ABL positive and negative individuals using fluorescent hybridization probes. | 2000 Nov |
1 |
| 27 |
10068660 | The rhesus macaque as an animal model for hemophilia B gene therapy. | 1999 Mar 15 |
1 |
| 28 |
10372548 | Identification of a new variant, HLA-Cw*1507, differing from Cw*1502 only at the KIR-related dimorphism of codons 77 and 80. | 1999 May |
2 |
| 29 |
9861481 | p53 gene mutations in asbestos associated cancers. | 1998 Sep |
1 |
| 30 |
7833265 | Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs. | 1995 Jan |
1 |
| 31 |
8104863 | Detection of an exon 53 polymorphism in the dystrophin gene. | 1993 Oct 1 |
1 |
| 32 |
1722316 | In vitro selection of lymphocytic choriomeningitis virus escape mutants by cytotoxic T lymphocytes. | 1991 Dec 15 |
1 |
| 33 |
1867199 | Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. | 1991 Aug |
1 |
| 34 |
3257825 | Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. | 1988 Mar |
1 |