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Whole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36.
- Published in:
- Neurodegenerative Diseases, 2024, v. 24, n. 2, p. 71, doi. 10.1159/000540006
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- Publication type:
- Article
EP18.25: Exome sequencing reveals patterns in recurrent isolated fetal anomalies: insights from three case reports.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 289, doi. 10.1002/uog.28761
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- Publication type:
- Article
EP18.17: Whole exome sequencing in prenatal diagnosis: anomaly of low diagnostic yield and incidental findings management.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 286, doi. 10.1002/uog.28753
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- Publication type:
- Article
EP06.48: A decade's data of treating polyhydramnios.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 160, doi. 10.1002/uog.28220
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- Publication type:
- Article
EP06.45: Prenatal diagnosis of Temple syndrome in the second trimester.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 160, doi. 10.1002/uog.28217
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- Publication type:
- Article
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
- Published in:
- 2024
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- Publication type:
- Case Study
The identification of a novel compound heterozygous mutation in hereditary human coagulation factor VII deficiency following a bamboo leaf green snake bite.
- Published in:
- Laboratory Medicine, 2024, v. 5, n. 5, p. 645, doi. 10.1093/labmed/lmae012
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- Publication type:
- Article
Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03838-2
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- Publication type:
- Article
Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, n. 3, p. 381, doi. 10.1002/uog.27647
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- Publication type:
- Article
Genetic disease testing.
- Published in:
- Medical Laboratory Observer (MLO), 2024, v. 56, n. 8, p. 34
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- Publication type:
- Article
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
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- Publication type:
- Article
Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.
- Published in:
- Systematic Reviews, 2024, v. 13, n. 1, p. 1, doi. 10.1186/s13643-024-02638-6
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- Publication type:
- Article
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1016, doi. 10.3390/genes15081016
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- Publication type:
- Article
Genetic testing in the European Union: does economic evaluation matter?
- Published in:
- European Journal of Health Economics, 2012, v. 13, n. 5, p. 651, doi. 10.1007/s10198-011-0319-x
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- Publication type:
- Article
Genética e Justiça: tratando a doença, respeitando a diferença.
- Published in:
- Impulso, 2004, v. 15, n. 36, p. 25
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- Publication type:
- Article
Primary localized cutaneous nodular amyloidosis on areola.
- Published in:
- 2022
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- Publication type:
- Letter
Solitary hard plaque on scalp with pustules: An unusual case of secondary osteoma cutis.
- Published in:
- 2020
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- Publication type:
- journal article
Primary cutaneous amyloidosis of auricular concha.
- Published in:
- 2020
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- Publication type:
- case study
Localized unilateral basaloid follicular hamartoma along Blaschko's lines on face.
- Published in:
- 2019
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- Publication type:
- case study
Dermatoscopy of multiple piloleiomyomas with disseminated and segmental distribution.
- Published in:
- 2018
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- Publication type:
- case study
A rare presentation of keratosis follicularis spinulosa decalvans in female twins.
- Published in:
- 2018
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- Publication type:
- case study
Comment on: "Dermoscopy of Biett's sign and differential diagnosis with annular maculopapular rashes with scaling".
- Published in:
- 2018
- By:
- Publication type:
- letter
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge.
- Published in:
- 2018
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- Publication type:
- case study
Multiple asymptomatic hard papules on cheeks in an elderly woman.
- Published in:
- 2017
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- Publication type:
- journal article
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis.
- Published in:
- 2017
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- Publication type:
- case study
Retraction: Delleman syndrome: Report of a case in an adolescent boy.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of gene mutation in an Indian man with Clouston syndrome.
- Published in:
- 2016
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- Publication type:
- case study
Cutaneous sarcoidosis and macular amyloidosis occurring at the same site.
- Published in:
- 2016
- By:
- Publication type:
- case study
Keratosis follicularis spinulosa decalvans.
- Published in:
- 2016
- By:
- Publication type:
- case study
Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association.
- Published in:
- 2015
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- Publication type:
- case study
Dermatoglyphic patterns in psoriasis, vitiligo and alopecia areata.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2010, v. 76, n. 2, p. 185, doi. 10.4103/0378-6323.60556
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- Publication type:
- Article
Alagille syndrome with prominent skin manifestations.
- Published in:
- 2005
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- Publication type:
- journal article
spectrum.
- Published in:
- Government Technology, 2015, v. 28, n. 4, p. 53
- Publication type:
- Article
Inherited Optic Neuropathies: Genetics and New Directions for Diagnosis and Therapy.
- Published in:
- Current Medical Literature: Ophthalmology, 2014, v. 24, n. 3, p. 73
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- Publication type:
- Article
Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.
- Published in:
- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255
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- Publication type:
- Article
A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.
- Published in:
- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930
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- Publication type:
- Article
Microchip PCR.
- Published in:
- Analytical & Bioanalytical Chemistry, 2003, v. 377, n. 5, p. 820, doi. 10.1007/s00216-003-2144-2
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- Publication type:
- Article
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
- Published in:
- Chromosome Research, 2024, v. 32, n. 3, p. 1, doi. 10.1007/s10577-024-09754-y
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- Publication type:
- Article
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.
- Published in:
- Chromosome Research, 2014, v. 22, n. 4, p. 453, doi. 10.1007/s10577-014-9431-y
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- Publication type:
- Article
A new approach using image analysis to assess pulmonary hypoplasia in the fetal lamb diaphragmatic hernia model.
- Published in:
- 2019
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- Publication type:
- journal article
Congenital diaphragmatic hernia: the good, the bad, and the tough.
- Published in:
- 2019
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- Publication type:
- journal article
The fetal lung-to-liver signal intensity ratio on magnetic resonance imaging as a predictor of outcomes from isolated congenital diaphragmatic hernia.
- Published in:
- 2018
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- Publication type:
- journal article
Pediatric Morgagni diaphragmatic hernia: a descriptive study.
- Published in:
- 2017
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- Publication type:
- journal article
Effect of Perflubron-induced lung growth on pulmonary vascular remodeling in congenital diaphragmatic hernia.
- Published in:
- 2016
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- Publication type:
- journal article
Congenital diaphragmatic hernia, management in the newborn.
- Published in:
- 2015
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- Publication type:
- journal article
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
- Published in:
- Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w
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- Publication type:
- Article
3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
- Published in:
- 2011
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- Publication type:
- case study
A case of third trimester diagnosis of Cornelia de Lange syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Maturity-onset diabetes of the young in a large Portuguese cohort.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 1, p. 83, doi. 10.1007/s00592-022-01980-2
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- Publication type:
- Article
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 9, p. 1169, doi. 10.1007/s00592-022-01915-x
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- Publication type:
- Article