Found: 169
Select item for more details and to access through your institution.
Genomic analysis of a heterogeneous Mendelian phenotype: Multiple novel alleles for inherited hearing loss in the Palestinian population.
- Published in:
- Human Genomics, 2006, v. 2, n. 4, p. 203, doi. 10.1186/1479-7364-2-4-203
- By:
- Publication type:
- Article
Reconstruction of critical size segmental femoral diaphyseal defects of New Zealand rabbits by using combined titanium mesh cage and induced membrane technique.
- Published in:
- European Journal of Orthopaedic Surgery & Traumatology, 2023, v. 33, n. 3, p. 629, doi. 10.1007/s00590-022-03330-y
- By:
- Publication type:
- Article
Glucagon-like peptide-2 exhibits protective effect on hepatic ischemia-reperfusion injury in rats.
- Published in:
- Frontiers of Medicine, 2015, v. 9, n. 3, p. 368, doi. 10.1007/s11684-015-0403-1
- By:
- Publication type:
- Article
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 6, p. 827, doi. 10.1007/s00431-014-2320-8
- By:
- Publication type:
- Article
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.
- Published in:
- 2005
- By:
- Publication type:
- journal article
A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Protective role of Proanthocyanidin in experimental ovarian torsion.
- Published in:
- Medical Journal of the Islamic Republic of Iran, 2015, v. 29, p. 1
- By:
- Publication type:
- Article
Complete Heart Block Related to Mumps Myocarditis in an 80-Year-Old Woman.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2015, v. 6, n. 2, p. 36, doi. 10.5152/jaemcr.2015.948
- By:
- Publication type:
- Article
Afflictive Effect of Squirting Cucumber: Isolated Uvular Oedema due to Complication of a Herbal Medicine.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2013, v. 4, n. 2, p. 84, doi. 10.5505/jaemcr.2013.75002
- By:
- Publication type:
- Article
Afflictive Effect of Squirting Cucumber: Isolated Uvular Oedema due to Complication of a Herbal Medicine.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2013, v. 4, n. 2, p. 84, doi. 10.5505/jaemcr.2013.75002
- By:
- Publication type:
- Article
The Effects of Passive Smoking on the Six-Minute Walk Test in Obese Pediatric Cases.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 4, p. 245, doi. 10.4274/jcrpe.1524
- By:
- Publication type:
- Article
MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
- Published in:
- Clinical Genetics, 2000, v. 57, n. 6, p. 430, doi. 10.1034/j.1399-0004.2000.570605.x
- By:
- Publication type:
- Article
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
SLITRK6 mutations cause myopia and deafness in humans and mice.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2094, doi. 10.1172/JCI65853
- By:
- Publication type:
- Article
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00556-7
- By:
- Publication type:
- Article
Postmodern Dinsellikler.
- Published in:
- UMDE Journal of Religious Inquiries / UMDE Dini Tetkikler Dergisi, 2023, v. 6, n. 2, p. 241, doi. 10.54122/umde.1379969
- By:
- Publication type:
- Article
Readability of online educational materials for brainstem implants: An assessment.
- Published in:
- Anatolian Clinic Journal of Medical Sciences, 2024, v. 29, n. 2, p. 187, doi. 10.21673/anadoluklin.1384818
- By:
- Publication type:
- Article
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892
- By:
- Publication type:
- Article
Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1171
- By:
- Publication type:
- Article
COVID‐19 in a child with severe propionic acidemia.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Screening of families of patients with left-sided cardiovascular anomalies.
- Published in:
- Pediatrics International, 2013, v. 55, n. 5, p. 555, doi. 10.1111/ped.12132
- By:
- Publication type:
- Article
Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.
- Published in:
- Pediatrics International, 2008, v. 50, n. 2, p. 172, doi. 10.1111/j.1442-200X.2008.02540.x
- By:
- Publication type:
- Article
Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome.
- Published in:
- Pediatrics International, 2005, v. 47, n. 5, p. 550, doi. 10.1111/j.1442-200x.2005.02124.x
- By:
- Publication type:
- Article
Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia.
- Published in:
- Pediatrics International, 2001, v. 43, n. 1, p. 74, doi. 10.1046/j.1442-200X.2001.01329.x
- By:
- Publication type:
- Article
The promise of whole-exome sequencing in medical genetics.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 1, p. 5, doi. 10.1038/jhg.2013.114
- By:
- Publication type:
- Article
Yoğun Bakım Ünitesinde Takip Edilen İntoksikasyon Olgularının Retrospektif Olarak İncelenmesi.
- Published in:
- Ortadogu Medical Journal / Ortadogu Tip Dergisi, 2015, v. 7, n. 1, p. 5
- By:
- Publication type:
- Article
Dünyanın Tekdüzeleşmesi: Müphemlik ve Çeşitlilik Kaybı Üzerine.
- Published in:
- Dîvân: Journal of Interdisciplinary Studies / Disiplinlerarasi Calismalar Dergisi, 2022, v. 52, n. 1, p. 217
- By:
- Publication type:
- Article
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63563
- By:
- Publication type:
- Article
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63481
- By:
- Publication type:
- Article
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1044, doi. 10.1002/ajmg.a.63119
- By:
- Publication type:
- Article
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1307, doi. 10.1002/ajmg.a.62634
- By:
- Publication type:
- Article
Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 548, doi. 10.1002/ajmg.a.61446
- By:
- Publication type:
- Article
Adams–Oliver syndrome caused by mutations of the EOGT gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2246, doi. 10.1002/ajmg.a.61313
- By:
- Publication type:
- Article
KBG syndrome: An Australian experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
- By:
- Publication type:
- Article
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1066, doi. 10.1002/ajmg.a.38109
- By:
- Publication type:
- Article
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2234, doi. 10.1002/ajmg.a.36072
- By:
- Publication type:
- Article
GPSM2 mutations in Chudley-McCullough syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2972, doi. 10.1002/ajmg.a.35636
- By:
- Publication type:
- Article
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 547, doi. 10.1002/ajmg.a.34436
- By:
- Publication type:
- Article
Serum Ischemia-Modified Albumin Levels in Experimental Model of Acute Pancreatitis.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2015, v. 25, n. 6, p. 395
- By:
- Publication type:
- Article
Intra-articular administration of extra-virgin olive oil in degenerative osteoarthritis.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13018-024-04818-5
- By:
- Publication type:
- Article
Neutrophil-to-lymphocyte ratio as a novel-potential marker for predicting prognosis of Bell palsy.
- Published in:
- Laryngoscope, 2014, v. 124, n. 7, p. 1678, doi. 10.1002/lary.24551
- By:
- Publication type:
- Article
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.
- Published in:
- Laryngoscope, 2010, v. 120, n. 2, p. 359, doi. 10.1002/lary.20689
- By:
- Publication type:
- Article
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
- Published in:
- Molecular Genetics & Genomics, 2015, v. 290, n. 4, p. 1327, doi. 10.1007/s00438-015-0995-9
- By:
- Publication type:
- Article
Change in Complete Blood Count Parameters and Vital Signs After Intravenous Infusion of 1 Liter of Normal Saline.
- Published in:
- Eurasian Journal of Emergency Medicine, 2018, v. 17, n. 2, p. 71, doi. 10.5152/eajem.2018.83007
- By:
- Publication type:
- Article
Does intrauterine tobacco exposure increase the pain perception of newborns?
- Published in:
- Journal of Pain Research, 2016, v. 9, p. 319, doi. 10.2147/JPR.S108500
- By:
- Publication type:
- Article
A Rare Association; Pulmonary Artery Sling and Mowat-Wilson Syndrome.
- Published in:
- Duzce Medical Journal, 2013, v. 15, n. 2, p. 49
- By:
- Publication type:
- Article
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142154
- By:
- Publication type:
- Article
An Amino Acid Deletion in <i>SZT2</i> in a Family with Non-Syndromic Intellectual Disability.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082810
- By:
- Publication type:
- Article
Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050628
- By:
- Publication type:
- Article
Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032000
- By:
- Publication type:
- Article