Found: 12
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Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
- Published in:
- Pediatrics International, 2016, v. 58, n. 5, p. 431, doi. 10.1111/ped.12924
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- Publication type:
- Article
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression.
- Published in:
- Pediatrics International, 2005, v. 47, n. 6, p. 691, doi. 10.1111/j.1442-200x.2005.02127.x
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- Publication type:
- Article
Patient Report Renal tubular dysgenesis complicated with severe cranium hypoplasia.
- Published in:
- Pediatrics International, 2004, v. 46, n. 1, p. 88, doi. 10.1111/j.1442-200X.2004.01830.x
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- Publication type:
- Article
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia.
- Published in:
- Pediatrics International, 2000, v. 42, n. 5, p. 564, doi. 10.1046/j.1442-200x.2000.01263.x
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- Publication type:
- Article
A Case of Farber Disease.
- Published in:
- Pediatrics International, 1992, v. 34, n. 1, p. 72, doi. 10.1111/j.1442-200X.1992.tb00928.x
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- Publication type:
- Article
Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 4043, doi. 10.1210/jc.2010-0150
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- Publication type:
- Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 756, doi. 10.1210/jc.2009-1334
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- Publication type:
- Article
Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3359, doi. 10.1210/jc.2003-032091
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- Publication type:
- Article
Usefulness of renal ultrasonography for assessment of severity and course of acute tubular necrosis.
- Published in:
- 1984
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- Publication type:
- journal article
The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 5/6, p. 211, doi. 10.1159/000518995
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- Publication type:
- Article
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 8, p. 1013, doi. 10.1507/endocrj.ej13-0023
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- Publication type:
- Article
Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families.
- Published in:
- Clinical Endocrinology, 1999, v. 51, n. 3, p. 355, doi. 10.1046/j.1365-2265.1999.00798.x
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- Publication type:
- Article