Works matching DE "KLEIN-Waardenburg syndrome"
Results: 159
Waardenburg syndrome as a challenging experience in pediatric cochlear implantation.
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- Journal of Medicine in Scientific Research, 2021, v. 4, n. 3, p. 223, doi. 10.4103/jmisr.jmisr_3_21
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- Article
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
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- Human Genetics, 2017, v. 136, n. 11/12, p. 1463, doi. 10.1007/s00439-017-1851-2
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- Article
Enabling Quality Interfaces with Mask-Free Approach to Selective Growth of MoS<sub>2</sub>/Graphene Stacked Structures.
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- Advanced Materials Interfaces, 2016, v. 3, n. 16, p. n/a, doi. 10.1002/admi.201600098
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- Article
A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes.
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- Experimental Dermatology, 2009, v. 18, n. 9, p. 741, doi. 10.1111/j.1600-0625.2009.00896.x
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- Article
P10.11: Second trimester prenasal and prefrontal skin thickening - association with Waardenburg syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 197, doi. 10.1002/uog.16591
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- Article
Waardenburg syndrome 2.
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- Indian Journal of Otology, 2012, v. 18, n. 4, p. 220, doi. 10.4103/0971-7749.104804
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- Article
Absent posterior semicircular canal: HRCT feature of Waardenburg syndrome.
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- 2012
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- Case Study
WHITE LOCK OF HAIR WITH HETEROCHROMIA.
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- 2016
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- Case Study
Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.
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- Journal of International Advanced Otology, 2017, v. 13, n. 2, p. 230, doi. 10.5152/iao.2017.3017
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- Article
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.
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- 2019
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- Letter to the Editor
Subcellular localization and stability of MITF are modulated by the bHLH‐Zip domain.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 1, p. 41, doi. 10.1111/pcmr.12721
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- Article
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 5, p. 501, doi. 10.1111/pcmr.12597
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- Article
MITF from missense to malady.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 6, p. 790, doi. 10.1111/pcmr.12162
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- Article
Hearing dysfunction in heterozygous Mitf<sup> Mi-wh</sup>/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 1, p. 78, doi. 10.1111/pcmr.12030
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- Article
Positive selection and high sensitivity test for MYD88 mutations using locked nucleic acid.
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- International Journal of Laboratory Hematology, 2016, v. 38, n. 2, p. 133, doi. 10.1111/ijlh.12456
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- Article
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders.
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- FASEB Journal, 2008, v. 22, n. 4, p. 1155, doi. 10.1096/fj.07-9080com
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- Article
Waardenburg syndrome presenting with constipation since birth.
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- Indian Pediatrics, 2014, v. 51, n. 12, p. 1013, doi. 10.1007/s13312-014-0549-y
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- Article
Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.
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- 2016
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- journal article
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
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- Human Genetics, 2012, v. 131, n. 3, p. 491, doi. 10.1007/s00439-011-1098-2
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- Article
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
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- Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9
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- Article
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
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- Human Genetics, 2000, v. 107, n. 1, p. 1, doi. 10.1007/s004390050001
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- Article
Waardenburg syndrome type I.
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- 2016
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- Case Study
TRICHO-CUTANEOUS HYPOMELANIC NEVUS.
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- 2015
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- Case Study
Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome.
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- Archives of Craniofacial Surgery, 2019, v. 20, n. 5, p. 329, doi. 10.7181/acfs.2019.00395
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- Article
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
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- 2016
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- Case Study
Cochlear implantation in Waardenburg syndrome: The Indian scenario.
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- Acta Oto-Laryngologica, 2010, v. 130, n. 10, p. 1097, doi. 10.3109/00016481003713640
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- Article
INTESTINAL AGANGLIONOSIS IN SHAH -WAARDENBURG SYNDROME; ANALYSIS OF 12 CASES.
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- Medical Channel, 2011, v. 17, n. 4, p. 45
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- Article
Waardenburg syndrome type2 in a 10 month old infant; a case report.
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- Journal of Mazandaran University of Medical Sciences (JMUMS), 2009, v. 19, p. 76
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- Article
Waardenburg syndrome.
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- Journal of the European Academy of Dermatology & Venereology, 2001, v. 15, n. 4, p. 330, doi. 10.1046/j.1468-3083.2001.00286.x
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- Article
Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.
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- 2015
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- Case Study
Multicystic dysplastic kidney associated with Waardenburg syndrome type 1.
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- Pediatric Nephrology, 1997, v. 11, n. 6, p. 744, doi. 10.1007/s004670050380
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- Article
Waardenburg syndrome.
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- International Journal of Dermatology, 1999, v. 38, n. 9, p. 656, doi. 10.1046/j.1365-4362.1999.00750.x
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- Article
Waardenburg syndrome type II in a taiwanese woman with a family history of pseudoxanthoma elasticum.
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- International Journal of Dermatology, 1997, v. 36, n. 12, p. 933, doi. 10.1111/j.1365-4362.1997.tb04158.x
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- Article
A POSSIBLE ANIMAL MODEL FOR VAARDENBURG'S SYNDROME.
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- International Journal of Dermatology, 1979, v. 18, n. 5, p. 372, doi. 10.1111/ijd.1979.18.5.372
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- Article
A POSSIBLE ANIMAL MODEL FOR WAARDENBURG'S SYNDROME.
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- International Journal of Dermatology, 1979, v. 18, n. 1, p. 372, doi. 10.1111/ijd.1979.18.5.372
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- Article
Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.
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- 2018
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- Case Study
The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report.
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- 2019
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- journal article
A Genetics Consultation for Family History of Hearing Loss.
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- 2018
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- Case Study
Waardenburg Sendromu: Bir Vaka Sunumu.
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- Journal of Current Pediatrics / Guncel Pediatri, 2010, v. 8, n. 3, p. 123
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- Article
Waardenburg syndrome in childhood deafness in Cameroon.
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- South African Journal of Child Health, 2014, v. 8, n. 1, p. 3, doi. 10.7196/SAJCH.672
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- Article
Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.
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- 2016
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- journal article
Cochlear Implants in Waardenburg Syndrome.
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- Laryngoscope, 2006, v. 116, n. 7, p. 1273
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- Article
Temporal Bone Abnormalities Associated With Hearing Loss in Waardenburg Syndrome.
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- Laryngoscope, 2003, v. 113, n. 11, p. 2035
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- Article
The Link Between Pigmentation and Hearing Loss.
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- Audiology Today, 2011, v. 23, n. 6, p. 72
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- Article
THE Contribution OF Genetics TO Hearing Impairment.
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- Audiology Today, 2011, v. 23, n. 2, p. 20
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- Article
Síndrome de Waardenburg - aspectos oftalmológicos e critérios de diagnóstico: relatos de casos.
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- Arquivos Brasileiros de Oftalmologia, 2012, v. 75, n. 5, p. 352, doi. 10.1590/S0004-27492012000500012
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- Article
Síndrome de Waardenburg tipo I: relato de caso.
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- 2011
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- Case Study
Waardenburg Syndrome: A Case Study of Two Patients.
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- 2015
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- Publication type:
- Report
Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.
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- 2006
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- Publication type:
- journal article
A rare case of multiple accessory breast tissue in the axillae, lower abdomen and vulval areas.
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- Journal of Obstetrics & Gynaecology, 2007, v. 27, n. 5, p. 531, doi. 10.1080/01443610701467473
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- Publication type:
- Article