Found: 23
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Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 312, doi. 10.1002/jmd2.12384
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- Article
Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.
- Published in:
- Children, 2023, v. 10, n. 8, p. 1334, doi. 10.3390/children10081334
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- Article
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.
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- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05406-w
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- Article
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
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- European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2535, doi. 10.1007/s00431-023-04886-5
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- Article
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2547, doi. 10.1007/s00431-023-05012-1
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- Publication type:
- Article
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 6, p. 1801, doi. 10.1007/s00467-022-05784-y
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- Article
Essential Minerals and Metabolic Adaptation of Immune Cells.
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- Nutrients, 2023, v. 15, n. 1, p. 123, doi. 10.3390/nu15010123
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- Article
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.
- Published in:
- Children, 2022, v. 9, n. 9, p. N.PAG, doi. 10.3390/children9091335
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- Publication type:
- Article
Atypical Presentation of Pallister--Hall Syndrome with Central Precious Puberty.
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- 2022
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- Publication type:
- Case Study
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Molecular autopsy by proxy in preconception counseling.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
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- Publication type:
- Article
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.
- Published in:
- 2021
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- Publication type:
- Case Study
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 513, doi. 10.1111/cge.13905
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- Publication type:
- Article
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.599564
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- Publication type:
- Article
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.
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- Clinical Case Reports, 2021, v. 9, n. 1, p. 229, doi. 10.1002/ccr3.3504
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- Publication type:
- Article
Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 99, doi. 10.1111/cge.13843
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- Article
Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.
- Published in:
- 2021
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- Publication type:
- Letter
Removal of aflatoxin G1 using lactic acid bacteria.
- Published in:
- Journal of Food Processing & Preservation, 2021, v. 45, n. 1, p. 1, doi. 10.1111/jfpp.15090
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- Publication type:
- Article
Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue.
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- Archives of Toxicology, 2020, v. 94, n. 12, p. 4037, doi. 10.1007/s00204-020-02869-1
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- Article
A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.
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- Journal of the Endocrine Society, 2020, v. 4, n. 2, p. N.PAG, doi. 10.1210/jendso/bvz028
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- Publication type:
- Article
An untold story: The important contributions of Muslim scholars for the understanding of human anatomy.
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- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2017, v. 300, n. 6, p. 986, doi. 10.1002/ar.23523
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- Publication type:
- Article
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
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- Cardiology, 2017, v. 137, n. 3, p. 188, doi. 10.1159/000465516
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- Publication type:
- Article
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.
- Published in:
- Journal of Anatomy, 2017, v. 230, n. 6, p. 842, doi. 10.1111/joa.12601
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- Publication type:
- Article