Found: 25
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Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.
- Published in:
- Journal of Gene Medicine, 2008, v. 10, n. 8, p. 890, doi. 10.1002/jgm.1218
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- Publication type:
- Article
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165
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- Publication type:
- Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
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- Publication type:
- Article
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931
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- Publication type:
- Article
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 4, p. 662, doi. 10.1002/jbmr.3938
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- Article
Inborn errors of metabolism: the flux from Mendelian to complex diseases.
- Published in:
- 2006
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- Publication type:
- journal article
Phenylbutyrate therapy for maple syrup urine disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 631, doi. 10.1093/hmg/ddq507
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- Publication type:
- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
- Published in:
- Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040221145945
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- Publication type:
- Article
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
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- Publication type:
- Article
1257: SYNDROMIC PHENOTYPES OF UGANDAN CHILDREN WITH CONGENITAL HEART DISEASE.
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- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 225
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
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- Publication type:
- Article
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01159-y
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- Publication type:
- Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
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- Publication type:
- Article
Clinical utility of genomic sequencing: a measurement toolkit.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
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- Publication type:
- Article
Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?
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- Neonatology (16617800), 2023, v. 120, n. 3, p. 395, doi. 10.1159/000529439
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- Publication type:
- Article
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 21, doi. 10.1002/jmd2.12188
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- Publication type:
- Article
Phenylbutyrate reduces plasma leucine concentrations without affecting the flux of leucine.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A335, doi. 10.1096/fasebj.21.5.a335
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- Publication type:
- Article
Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 261, doi. 10.1002/ajmg.a.61942
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- Publication type:
- Article
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2911, doi. 10.1002/ajmg.a.40645
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- Publication type:
- Article
Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561
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- Publication type:
- Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113
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- Publication type:
- Article
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1111, doi. 10.1002/ajmg.a.36883
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- Publication type:
- Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
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- Publication type:
- Article