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Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Characteristic external genitalia in male neonates with 5α-reductase deficiency.
- Published in:
- Endocrine Journal, 2024, v. 71, n. 10, p. 973, doi. 10.1507/endocrj.EJ23-0740
- By:
- Publication type:
- Article
Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells.
- Published in:
- IJU Case Reports, 2020, v. 3, n. 2, p. 53, doi. 10.1002/iju5.12142
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- Publication type:
- Article
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 5, p. 409, doi. 10.1093/molehr/7.5.409
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- Publication type:
- Article
Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia.
- Published in:
- Neonatology (16617800), 2022, v. 119, n. 6, p. 785, doi. 10.1159/000527065
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- Publication type:
- Article
Thoracoscopic Removal of Neurogenic Mediastinal Tumors in Children.
- Published in:
- Journal of Laparoendoscopic & Advanced Surgical Techniques, 2005, v. 15, n. 1, p. 80, doi. 10.1089/lap.2005.15.80
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- Publication type:
- Article
Hepatic arterial infusion chemotherapy with cisplatin and sorafenib in hepatocellular carcinoma patients unresponsive to transarterial chemoembolization: A propensity score-based weighting.
- Published in:
- Journal of Digestive Diseases, 2015, v. 16, n. 3, p. 143, doi. 10.1111/1751-2980.12221
- By:
- Publication type:
- Article
Response to Letter to the Editor From Janot et al: "Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia".
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1812, doi. 10.1210/clinem/dgae230
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- Publication type:
- Article
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 641, doi. 10.1210/clinem/dgad627
- By:
- Publication type:
- Article
Prefrontal modulation during chewing performance in occlusal dysesthesia patients: a functional near-infrared spectroscopy study.
- Published in:
- Clinical Oral Investigations, 2019, v. 23, n. 3, p. 1181, doi. 10.1007/s00784-018-2534-7
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- Publication type:
- Article
Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 2, p. 1, doi. 10.1210/jcemcr/luad010
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- Publication type:
- Article
A girl with type 1A diabetes mellitus and extrahepatic portal vein obstruction.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Effectiveness of dihydrotestosterone ointment on glans penis size increment in a 5-alpha-reductase type 2 deficiency patient.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15079
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- Publication type:
- Article
Ultrasound finding of vaginal bleeding in infants with 21-hydroxylase deficiency.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.14966
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- Publication type:
- Article
One microliter of blood for SRY testing in a neonate with atypical genitalia.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15345
- By:
- Publication type:
- Article
Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan.
- Published in:
- Pediatrics International, 2018, v. 60, n. 8, p. 719, doi. 10.1111/ped.13601
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- Publication type:
- Article
Parenteral nutrition-associated liver disease in extremely low-birthweight infants with intestinal disease.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 677, doi. 10.1111/ped.12609
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- Publication type:
- Article
Zebrafish Vascular Mural Cell Biology: Recent Advances, Development, and Functions.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 10, p. 1041, doi. 10.3390/life11101041
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- Publication type:
- Article
Mechanical loading of intraluminal pressure mediates wound angiogenesis by regulating the TOCA family of F-BAR proteins.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30197-8
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- Publication type:
- Article
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63562
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- Publication type:
- Article
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1836, doi. 10.1002/ajmg.a.62152
- By:
- Publication type:
- Article
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
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- Publication type:
- Article
Cover Image, Volume 176A, Number 1, January 2018.
- Published in:
- 2018
- By:
- Publication type:
- Other
Discordant fetal phenotype of hypophosphatasia in two siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 171, doi. 10.1002/ajmg.a.38531
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- Publication type:
- Article
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2834, doi. 10.1002/ajmg.a.38368
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- Publication type:
- Article
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2529, doi. 10.1002/ajmg.a.36669
- By:
- Publication type:
- Article
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 261, doi. 10.1002/ajmg.a.34393
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- Publication type:
- Article
Response to: Comment on “First-Line Helicobacter pylori Eradication with Vonoprazan, Clarithromycin, and Metronidazole in Patients Allergic to Penicillin”.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
First-Line Helicobacter pylori Eradication with Vonoprazan, Clarithromycin, and Metronidazole in Patients Allergic to Penicillin.
- Published in:
- Gastroenterology Research & Practice, 2017, p. 1, doi. 10.1155/2017/2019802
- By:
- Publication type:
- Article
Nonclassic TSH Resistance: TSHR Mutation Carriers with Discrepantly High Thyroidal Iodine Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1340, doi. 10.1210/jc.2011-0070
- By:
- Publication type:
- Article
Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Coordinated features in jaw and neck muscle activities induced by chewing of soft and hard gum in healthy subjects.
- Published in:
- Clinical & Experimental Dental Research, 2021, v. 7, n. 5, p. 868, doi. 10.1002/cre2.413
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- Publication type:
- Article
Endothelial cells regulate alveolar morphogenesis by constructing basement membranes acting as a scaffold for myofibroblasts.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45910-y
- By:
- Publication type:
- Article
IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140750
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- Publication type:
- Article
Quantitative and Sensitive Detection of <i>GNAS</i> Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060525
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- Publication type:
- Article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
- By:
- Publication type:
- Article
A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036809
- By:
- Publication type:
- Article
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1723, doi. 10.1210/jc.2008-2816
- By:
- Publication type:
- Article
Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3431, doi. 10.1210/jc.2002-021415
- By:
- Publication type:
- Article
Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5372, doi. 10.1210/jcem.86.11.7999
- By:
- Publication type:
- Article
Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.
- Published in:
- BMC Health Services Research, 2016, v. 16, p. 1, doi. 10.1186/s12913-016-1854-z
- By:
- Publication type:
- Article
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
- Published in:
- Pituitary, 2014, v. 17, n. 6, p. 569, doi. 10.1007/s11102-013-0546-5
- By:
- Publication type:
- Article
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1367, doi. 10.1210/js.2019-00086
- By:
- Publication type:
- Article
Living-related intestinal transplantation for a patient with hypoganglionosis.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 2, p. 244, doi. 10.1111/j.1399-3046.2005.00421.x
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- Publication type:
- Article
Exfoliative rejection after intestinal transplantation in children.
- Published in:
- Pediatric Transplantation, 2003, v. 7, n. 3, p. 185, doi. 10.1034/j.1399-3046.2003.00063.x
- By:
- Publication type:
- Article
High trough levels of oral FK506 induced by loss of small intestine.
- Published in:
- Pediatric Transplantation, 2001, v. 5, n. 6, p. 434, doi. 10.1034/j.1399-3046.2001.t01-1-00041.x
- By:
- Publication type:
- Article
Monoallelic expresion of the odourant receptor gene and axonal projection of olfactory sensory neurones.
- Published in:
- Genes to Cells, 2001, v. 6, n. 1, p. 71, doi. 10.1046/j.1365-2443.2001.00398.x
- By:
- Publication type:
- Article
Bacterial MgrB peptide activates chemoreceptor Fpr3 in mouse accessory olfactory system and drives avoidance behaviour.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12842-x
- By:
- Publication type:
- Article
The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 185, doi. 10.1159/000448677
- By:
- Publication type:
- Article