Search Results

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

• Authors : Wilke, Matheus V. M. B.; Klee, Eric W.; Dhamija, Radhika

Subjects: NUCLEOTIDE sequencing; GENETIC variation; RARE diseasesMAYO Clinic

• Source: Orphanet Journal of Rare Diseases; 5/24/2024, Vol. 19 Issue 1, p1-9, 9p

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Explaining Alport syndrome—lessons from the adult nephrology clinic.

• Authors : Mabillard, Holly^1,2; Ryan, Rebecca¹; Tzoumas, Nik^3,4

Subjects: *ALPORT syndrome; *KIDNEY diseases; *KIDNEY failure

• Source: Journal of Rare Diseases. 5/13/2024, Vol. 3 Issue 1, p1-26. 26p.

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Genetic Screening: Overview.

• Authors : Akinwunmi, Oluwatoyin O.; Lichten, Lauren; Griswold, Ann

Subjects: GENETIC testing; BIOMARKERS; GENETIC markers

• Source: Points of View: Genetic Screening. 05/10/2024, p1-7. 1p.

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Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.

• Authors : Miyanohara, Ikuyo; Ohori, Junichiro; Tabuchi, Minako

Subjects: SENSORINEURAL hearing loss; GENETIC testing; GENETIC variation

• Source: Genes; May2024, Vol. 15 Issue 5, p571, 12p

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Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology.

• Authors : Neuhofer, Christiane M.; Prokisch, Holger

Subjects: HEREDITY; MITOCHONDRIAL pathology; HUMAN genetics

• Source: International Journal of Molecular Sciences; May2024, Vol. 25 Issue 9, p4602, 16p

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Studies from Qingdao University Provide New Data on Deafness (Genetic Screening of Common Genetic Deafness In 60,391 Women of Childbearing Age and Intervention of Birth Defects).

Subjects: GENETIC testing; DEAFNESS; CHILDBEARING age

• Source: Genomics & Genetics Weekly; 4/12/2024, p2136-2136, 1p

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HDR syndrome, detected in the neonatal period by newborn hearing screening.

• Authors : Takai, Shunsuke¹ (AUTHOR) ; Adachi, Mika¹ (AUTHOR); Takahashi, Hiyori¹ (AUTHOR)

Subjects: *HYPOPARATHYROIDISM; *NEWBORN screening; *SENSORINEURAL hearing lossGREAT Britain. National Health Service

• Source: Auris Nasus Larynx. Apr2024, Vol. 51 Issue 2, p406-410. 5p.

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Syndromic Retinitis Pigmentosa: A 15-Patient Study.

• Authors : Holanda, Ianne Pessoa; Rim, Priscila Hae Hyun; Guaragna, Mara Sanches

Subjects: RETINITIS pigmentosa; AGE of onset; USHER'S syndromeBRAZIL

• Source: Genes; Apr2024, Vol. 15 Issue 4, p516, 13p

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Clinical and genetic characteristics of 18 cases with suspected congenital long QT syndrome: A retrospective cross-sectional study.

• Authors : Zhang, Ying; Sun, Mei; Zhou, Feiyu

Subjects: CROSS-sectional method; LONG QT syndrome; HUMAN abnormalitiesCHINA

• Source: Heart & Mind; Apr-Jun2024, Vol. 8 Issue 2, p117-123, 7p

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Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.

• Authors : Han, Ji Hyuk¹ (AUTHOR) ; Bae, Seong Hoon¹ (AUTHOR) ; Joo, Sun Young² (AUTHOR)

Subjects: *VESTIBULO-ocular reflex; *VESTIBULAR function tests; *HEARING disorders

• Source: Journal of Clinical Medicine. Apr2024, Vol. 13 Issue 7, p2001. 13p.

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