Found: 12
Select item for more details and to access through your institution.
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 2, p. 383, doi. 10.1002/ppul.24583
- By:
- Publication type:
- Article
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63645
- By:
- Publication type:
- Article
New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63449
- By:
- Publication type:
- Article
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1888, doi. 10.1002/ajmg.a.62179
- By:
- Publication type:
- Article
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3143, doi. 10.1002/ajmg.a.38495
- By:
- Publication type:
- Article
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2022, v. 25, n. 6, p. 441, doi. 10.5223/pghn.2022.25.6.441
- By:
- Publication type:
- Article
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1114, doi. 10.1177/10556656211038115
- By:
- Publication type:
- Article
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 691, doi. 10.24953/turkjped.2021.04.017
- By:
- Publication type:
- Article
The effects of larval diet restriction on developmental time, preadult survival, and wing length in Drosophila melanogaster.
- Published in:
- Turkish Journal of Zoology, 2015, v. 39, n. 3, p. 395, doi. 10.3906/zoo-1305-42
- By:
- Publication type:
- Article
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 679, doi. 10.1111/cge.14406
- By:
- Publication type:
- Article
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002
- By:
- Publication type:
- Article