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Novel mutation in interleukin 1 receptor antagonist associated with chronic diarrhoea in infancy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
MLIP-Associated Myopathy: A Case Report and Review of the Literature.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 293, doi. 10.3233/JND-221520
- By:
- Publication type:
- Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
- By:
- Publication type:
- Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Taking angiotensin-converting enzyme inhibitors during pregnancy: is it safe?
- Published in:
- 2012
- By:
- Publication type:
- journal article
Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 8, p. 1253, doi. 10.1002/mdc3.13342
- By:
- Publication type:
- Article
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
- By:
- Publication type:
- Article
Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 376, doi. 10.1111/cge.13883
- By:
- Publication type:
- Article
Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 520, doi. 10.1111/cge.13838
- By:
- Publication type:
- Article
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 666, doi. 10.1111/cge.13678
- By:
- Publication type:
- Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438
- By:
- Publication type:
- Article
A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 851, doi. 10.1515/jpem-2013-0343
- By:
- Publication type:
- Article
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 452, doi. 10.1007/s10875-022-01394-3
- By:
- Publication type:
- Article
Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report.
- Published in:
- Oman Medical Journal, 2019, v. 34, n. 5, p. 460, doi. 10.5001/omj.2019.83
- By:
- Publication type:
- Article
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
- Published in:
- 2014
- By:
- Publication type:
- journal article
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2
- By:
- Publication type:
- Article
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
- Published in:
- Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2
- By:
- Publication type:
- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
- By:
- Publication type:
- Article
The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.886182
- By:
- Publication type:
- Article
De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0231364
- By:
- Publication type:
- Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22036-z
- By:
- Publication type:
- Article
Prospective study of activities of daily living outcomes in children with cerebellar atrophy.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 460, doi. 10.1111/dmcn.12289
- By:
- Publication type:
- Article
Homozygosity for FARSB mutation leads to Phe‐tRNA synthetase‐related disease of growth restriction, brain calcification, and interstitial lung disease.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1355, doi. 10.1002/humu.23595
- By:
- Publication type:
- Article
Biallelic variants of the first Kunitz domain of SPINT2 cause a non‐syndromic form of congenital diarrhea and tufting enteropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63474
- By:
- Publication type:
- Article
Further phenotypic delineation of Alazami syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778
- By:
- Publication type:
- Article
Phenotypic spectrum of ALPK3‐related cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1235, doi. 10.1002/ajmg.a.61176
- By:
- Publication type:
- Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
- By:
- Publication type:
- Article
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 435, doi. 10.1002/ajmg.a.37422
- By:
- Publication type:
- Article
Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 796, doi. 10.1002/ajmg.a.36356
- By:
- Publication type:
- Article
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1714, doi. 10.1002/ajmg.a.35945
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- Publication type:
- Article
Complex II deficiency-A case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 285, doi. 10.1002/ajmg.a.35714
- By:
- Publication type:
- Article
HIV disease presenting as a unilateral parotid gland swelling.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 3, p. 392, doi. 10.1177/0883073812443591
- By:
- Publication type:
- Article
Diagnostic Approach to Childhood-Onset Cerebellar Atrophy: A 10-Year Retrospective Study of 300 Patients.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 9, p. 1121, doi. 10.1177/0883073812448680
- By:
- Publication type:
- Article