Found: 16
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An unusual case of nephrotic syndrome in a microcephalic infant: Answers.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 11, p. 2327, doi. 10.1007/s00467-019-04261-3
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- Publication type:
- Article
An unusual case of nephrotic syndrome in a microcephalic infant: Questions.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 439, doi. 10.1002/epi4.12878
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- Publication type:
- Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0658-5
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- Publication type:
- Article
Growth Hormone Therapy in Progeria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 5, p. 633, doi. 10.1515/jpem.2007.20.5.633
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- Publication type:
- Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
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- Publication type:
- Article
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress.
- Published in:
- JAMA: Journal of the American Medical Association, 2003, v. 290, n. 19, p. 2564, doi. 10.1001/jama.290.19.2564
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- Publication type:
- Article
LETTERS.
- Published in:
- 2000
- By:
- Publication type:
- Letter
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Publication type:
- Article
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
- Published in:
- Human Mutation, 1996, v. 7, n. 3, p. 279, doi. 10.1002/(SICI)1098-1004(1996)7:3<279::AID-HUMU16>3.0.CO;2-#
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- Publication type:
- Article
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1580, doi. 10.1002/ajmg.a.37611
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- Publication type:
- Article
A description of spina bifida cases and co-occurring malformations, 1976-2011.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 432, doi. 10.1002/ajmg.a.36324
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- Publication type:
- Article
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
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- Publication type:
- Article
Keratoconus in Costello Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1132, doi. 10.1002/ajmg.a.35816
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- Publication type:
- Article
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1411, doi. 10.1002/ajmg.a.35318
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- Publication type:
- Article