Found: 27
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Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
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- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 11, p. 1545, doi. 10.1111/jog.12081
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- Article
Retrospective analysis of clonality and detection of residual disease in myeloid leukemia by FISH on long-term stored bone marrow smears.
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- Pediatrics International, 1998, v. 40, n. 4, p. 318, doi. 10.1111/j.1442-200X.1998.tb01939.x
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- Article
Osteogenesis Irnperfecta in Twins: Case Report and Review of Literature.
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- Pediatrics International, 1988, v. 30, n. 5, p. 621, doi. 10.1111/j.1442-200X.1988.tb01589.x
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- Article
Proximal 3p Deletion: Case Report and Review of the Literature.
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- Pediatrics International, 1988, v. 30, n. 1, p. 78, doi. 10.1111/j.1442-200X.1988.tb02501.x
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- Article
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
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- Journal of Human Genetics, 2015, v. 60, n. 1, p. 27, doi. 10.1038/jhg.2014.97
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- Article
A commentary on the promise of whole-exome sequencing in medical genetics.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 117, doi. 10.1038/jhg.2014.7
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- Article
In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan.
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- Journal of Human Genetics, 2013, v. 58, n. 3, p. 117, doi. 10.1038/jhg.2012.150
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- Article
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 57, doi. 10.1038/jhg.2012.138
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- Article
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.
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- Journal of Human Genetics, 2012, v. 57, n. 12, p. 787, doi. 10.1038/jhg.2012.114
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- Article
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 207, doi. 10.1038/jhg.2012.7
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- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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- Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219
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- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
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- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
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- Article
Haploinsufficiency of NSD1 causes Sotos syndrome.
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- Nature Genetics, 2002, v. 30, n. 4, p. 365, doi. 10.1038/ng863
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- Article
Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in <italic>ASXL3</italic>.
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- Clinical Case Reports, 2018, v. 6, n. 2, p. 330, doi. 10.1002/ccr3.1361
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- Article
Novel alternative splicing of human faciogenital dysplasia 1 gene.
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- Congenital Anomalies, 2004, v. 44, n. 3, p. 137, doi. 10.1111/j.1741-4520.2004.00026.x
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- Article
Application of an Original Computerized Database (UR-DBMS) for Diagnosis of the Malformation Syndromes.
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- Congenital Anomalies, 1998, v. 38, n. 3, p. 251, doi. 10.1111/j.1741-4520.1998.tb00808.x
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- Article
A Case of 4p Trisomy Syndrome Originated from Maternal rcp(4; | 4)(p | 5. |;p ||.|): An Analysis with CBG, Ag-NORs and Cd Banding Techniques in Prometaphase Cells.
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- Congenital Anomalies, 1988, v. 28, n. 1, p. 17, doi. 10.1111/j.1741-4520.1988.tb00572.x
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- Article
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00187-9
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- Article
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.
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- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0098-y
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- Article
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0053-y
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- Article
Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
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- Article
Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.
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- Autism Research & Treatment, 2012, p. 1, doi. 10.1155/2012/724072
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- Article
Genetic and Diagnostic Studies of Mental Retardation.
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- Pediatrics International, 1984, v. 26, n. 3, p. 473, doi. 10.1111/j.1442-200X.1984.tb01852.x
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- Article
A Study of HLA in Japanese Patients with Rheumatic Fever.
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- Pediatrics International, 1980, v. 24, n. 1, p. 169, doi. 10.1111/j.1442-200X.1980.tb00500.x
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- Article
Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization.
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- Clinical Genetics, 1992, v. 42, n. 2, p. 80, doi. 10.1111/j.1399-0004.1992.tb03144.x
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- Article
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-56
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- Article