Found: 26
Select item for more details and to access through your institution.
Munchausen syndrome by proxy mimicking as Gaucher disease.
- Published in:
- 2010
- By:
- Publication type:
- journal article
PRUNE Syndrome Is a New Neurodevelopmental Disorder.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X17752237
- By:
- Publication type:
- Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 3, p. 172, doi. 10.1002/ajmg.b.32774
- By:
- Publication type:
- Article
ADAT3-related intellectual disability: Further delineation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
- By:
- Publication type:
- Article
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
- Published in:
- American Journal of Neuroradiology, 2024, v. 45, n. 10, p. 1570, doi. 10.3174/ajnr.A8364
- By:
- Publication type:
- Article
ANKS3 is mutated in a family with autosomal recessive laterality defect.
- Published in:
- Human Genetics, 2016, v. 135, n. 11, p. 1233, doi. 10.1007/s00439-016-1712-4
- By:
- Publication type:
- Article
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1191, doi. 10.1007/s00439-016-1722-2
- By:
- Publication type:
- Article
In search of triallelism in Bardet-Biedl syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
- By:
- Publication type:
- Article
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0851-6
- By:
- Publication type:
- Article
Optimization, Characterization of Newly Immobilized Mannanase on Activated Chitosan Beads and Its Applications .
- Published in:
- Jordan Journal of Biological Sciences, 2023, v. 16, n. 1, p. 73, doi. 10.54319/jjbs/160110
- By:
- Publication type:
- Article
A Study of the Use of Deep Artificial Neural Network in the Optimization of the Production of Antifungal Exochitinase Compared with the Response Surface Methodology.
- Published in:
- Jordan Journal of Biological Sciences, 2019, v. 12, n. 5, p. 543
- By:
- Publication type:
- Article
A Thermodynamic Study of Partially-Purified Penicillium humicola β-mannanase Produced by Statistical Optimization.
- Published in:
- Jordan Journal of Biological Sciences, 2019, v. 12, n. 2, p. 209
- By:
- Publication type:
- Article
Immunohistochemical study of gonadotropin-releasing hormone and somatolactin during induced spawning of Liza ramada.
- Published in:
- Egyptian Journal of Histology, 2017, v. 40, n. 3, p. 303, doi. 10.21608/EJH.2017.4657
- By:
- Publication type:
- Article
Effect of temperature on growth hormone-secreting cells' immunoreactivity and larval growth during development of Nile tilapia, Oreochromis niloticus.
- Published in:
- Egyptian Journal of Histology, 2015, v. 38, n. 1, p. 93, doi. 10.1097/01.EHX.0000460081.10666.21
- By:
- Publication type:
- Article
Effect of stress during handling, seawater acclimation, confinement, and induced spawning on plasma ion levels and somatolactin immunoreactivity in mature female thin-lipped gray mullet, Liza ramada.
- Published in:
- Egyptian Journal of Histology, 2011, v. 34, n. 2, p. 270, doi. 10.1097/01.EHX.0000396643.95256.c7
- By:
- Publication type:
- Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
- Published in:
- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
- By:
- Publication type:
- Article
The prevalence and phenotypic range associated with biallelic PKDCC variants.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
- By:
- Publication type:
- Article
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
- By:
- Publication type:
- Article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410
- By:
- Publication type:
- Article
Characterizing the morbid genome of ciliopathies.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
- By:
- Publication type:
- Article
A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The fragile site WWOX gene and the developing brain.
- Published in:
- Experimental Biology & Medicine, 2015, v. 240, n. 3, p. 400, doi. 10.1177/1535370214561952
- By:
- Publication type:
- Article
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The impact of foot reflexology on fatigue and sleep quality in school‑aged children undergoing hemodialysis.
- Published in:
- Journal of Integrative Nursing, 2024, v. 6, n. 2, p. 76, doi. 10.4103/jin.jin_3_24
- By:
- Publication type:
- Article
The Antioxidative effect of Carvacrol on Methotrexate induced testicular damage in rats.
- Published in:
- Alexandria Journal of Veterinary Sciences, 2023, v. 76, n. 2, p. 6, doi. 10.5455/ajvs.121847
- By:
- Publication type:
- Article
Modulation of Antioxidant Activities in Japanese Quails Using Graded Levels of Rosemary Oil Supplemented Diet.
- Published in:
- Alexandria Journal of Veterinary Sciences, 2019, v. 63, n. 1, p. 69, doi. 10.5455/ajvs.59271
- By:
- Publication type:
- Article