Found: 20
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A Case Report of Occult Breast Cancer Detected by Diagnostic Laparoscopy for Suspected Ovarian Cancer.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKTmTOR pathway-associated megalencephaly.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0363-6
- By:
- Publication type:
- Article
Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0503-6
- By:
- Publication type:
- Article
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 6, p. 691, doi. 10.1515/jpem-2019-0433
- By:
- Publication type:
- Article
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1111, doi. 10.1515/jpem-2017-0035
- By:
- Publication type:
- Article
Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2358, doi. 10.1210/clinem/dgae098
- By:
- Publication type:
- Article
An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 2, p. 114, doi. 10.1297/cpe.2022-0075
- By:
- Publication type:
- Article
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 44, doi. 10.1297/cpe.2021-0029
- By:
- Publication type:
- Article
Hematocolpos due to lower vaginal agenesis in an adolescent girl.
- Published in:
- Acute Medicine & Surgery, 2023, v. 10, n. 1, p. 1, doi. 10.1002/ams2.832
- By:
- Publication type:
- Article
Apocrine Adenocarcinoma of the Vulva: A Case Report and Review of the Literature.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's Study.
- Published in:
- Children, 2023, v. 10, n. 3, p. 557, doi. 10.3390/children10030557
- By:
- Publication type:
- Article
An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00173-7
- By:
- Publication type:
- Article
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Effects of PARP Inhibitors on Subsequent Platinum-Based Chemotherapy in Patients with Recurrent Ovarian Cancer.
- Published in:
- Cancers, 2024, v. 16, n. 15, p. 2651, doi. 10.3390/cancers16152651
- By:
- Publication type:
- Article
3D-Image-Guided Multi-Catheter Interstitial Brachytherapy for Bulky and High-Risk Stage IIB–IVB Cervical Cancer.
- Published in:
- Cancers, 2022, v. 14, n. 5, p. 1257, doi. 10.3390/cancers14051257
- By:
- Publication type:
- Article
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15151-4
- By:
- Publication type:
- Article
Genistein induces long-term expression of progesterone receptor regardless of estrogen receptor status and improves the prognosis of endometrial cancer patients.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13842-6
- By:
- Publication type:
- Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657820
- By:
- Publication type:
- Article