Found: 21
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New genomic region for Wegener’s granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.
- Published in:
- Human Genetics, 2004, v. 114, n. 5, p. 468, doi. 10.1007/s00439-004-1092-z
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- Publication type:
- Article
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.
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- Case Reports in Genetics, 2015, p. 1, doi. 10.1155/2015/738469
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- Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
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- Article
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?
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- Molecular Syndromology, 2019, v. 10, n. 4, p. 219, doi. 10.1159/000501114
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- Publication type:
- Article
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
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- Journal of Neural Transmission, 2018, v. 125, n. 12, p. 1877, doi. 10.1007/s00702-018-1924-y
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- Article
Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.664946
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- Article
Dental and oral anomalies in incontinentia pigmenti: a systematic review.
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- Clinical Oral Investigations, 2013, v. 17, n. 1, p. 1, doi. 10.1007/s00784-012-0721-5
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- Article
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.
- Published in:
- 2001
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- Publication type:
- case study
Proteinase 3 gene polymorphisms and Wegener's granulomatosis.
- Published in:
- Kidney International, 2000, v. 58, n. 6, p. 2473, doi. 10.1046/j.1523-1755.2000.00430.x
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- Publication type:
- Article
Cochlear Implantation in Siblings With Refsum's Disease.
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- Annals of Otology, Rhinology & Laryngology, 2017, v. 126, n. 8, p. 611, doi. 10.1177/0003489417717269
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- Publication type:
- Article
ApoE polymorphisms in narcolepsy.
- Published in:
- BMC Medical Genetics, 2001, v. 2, p. 1
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- Publication type:
- Article
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A
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- Publication type:
- Article
First IKBKG Gene Mutation Study in Serbian Incontinentia Pigmenti Patients.
- Published in:
- Srpski Arhiv za Celokupno Lekarstvo, 2013, v. 141, n. 7/8, p. 490, doi. 10.2298/SARH1308490M
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- Publication type:
- Article
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
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- Journal of Neurology, 2004, v. 251, n. 1, p. 72, doi. 10.1007/s00415-004-0274-x
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- Publication type:
- Article
Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in German patients.
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- Journal of Molecular Medicine, 2003, v. 81, n. 2, p. 87, doi. 10.1007/s00109-002-0405-8
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- Publication type:
- Article
Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2385, doi. 10.1002/ajmg.a.35985
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- Publication type:
- Article
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 626, doi. 10.1002/ajmg.a.35758
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- Publication type:
- Article
Isolated loss of γ-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
- Published in:
- Muscle & Nerve, 2001, v. 24, n. 3, p. 421, doi. 10.1002/1097-4598(200103)24:3<421::AID-MUS1016>3.0.CO;2-R
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- Publication type:
- Article
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype.
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- Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184
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- Publication type:
- Article
A Novel PANK2 Gene Mutation: Clinical and Molecular Characteristics of Patients—Short Communication.
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- Journal of Child Neurology, 2007, v. 22, n. 11, p. 1256, doi. 10.1177/0883073807307092
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- Publication type:
- Article
Identification of genetic families based on mitochondrial D-loop sequence in population of the Tatra chamois (Rupicapra rupicapra tatrica).
- Published in:
- Biologia, 2020, v. 75, n. 1, p. 121, doi. 10.2478/s11756-019-00313-z
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- Publication type:
- Article