Found: 27
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Pregnancy in autosomal recessive polycystic kidney disease.
- Published in:
- 2015
- By:
- Publication type:
- Report
Genetic basis of cystinosis in Turkish patients: a single-center experience.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 1, p. 115, doi. 10.1007/s00467-011-1942-6
- By:
- Publication type:
- Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
- By:
- Publication type:
- Article
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Respiratory manifestations in 38 patients with Alström syndrome.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 487, doi. 10.1002/ppul.23607
- By:
- Publication type:
- Article
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
- By:
- Publication type:
- Article
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 121, doi. 10.1002/ajmg.c.31966
- By:
- Publication type:
- Article
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
- Published in:
- Pediatric Radiology, 2009, v. 39, n. 2, p. 100, doi. 10.1007/s00247-008-1064-x
- By:
- Publication type:
- Article
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
- By:
- Publication type:
- Article
High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 17, doi. 10.1002/jmd2.12087
- By:
- Publication type:
- Article
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14360-7
- By:
- Publication type:
- Article
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054
- By:
- Publication type:
- Article
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 847, doi. 10.1002/ajmg.a.62593
- By:
- Publication type:
- Article
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 410, doi. 10.1002/ajmg.a.61037
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 12, December 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Defective ciliogenesis in INPP5E-related Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376
- By:
- Publication type:
- Article
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2210, doi. 10.1002/ajmg.a.38316
- By:
- Publication type:
- Article
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1796, doi. 10.1002/ajmg.a.38272
- By:
- Publication type:
- Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
- By:
- Publication type:
- Article
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1600, doi. 10.1002/ajmg.a.37620
- By:
- Publication type:
- Article
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1644, doi. 10.1002/ajmg.a.37066
- By:
- Publication type:
- Article
Hypertrophic cardiomyopathy: How far should we go with genetic testing?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 232, doi. 10.1002/ajmg.a.35666
- By:
- Publication type:
- Article
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1414, doi. 10.1002/ajmg.a.35363
- By:
- Publication type:
- Article
Consensus clinical management guidelines for Alström syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2018, v. 103, n. 7, p. 2707, doi. 10.1210/jc.2018-00496
- By:
- Publication type:
- Article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
- Published in:
- 2018
- By:
- Publication type:
- journal article