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Academic Journal

[Specification for genetic diagnosis of congenital heart disease].

Subjects: Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 641-650.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Clinical characteristics and genetic analysis of four children with Rotor syndrome].

  • Authors : Tan Y; Department of Hepatology, Hunan Children's Hospital, Changsha, Hunan 410007, China. .; Ouyang W

Subjects: Solute Carrier Organic Anion Transporter Family Member 1B3*/Solute Carrier Organic Anion Transporter Family Member 1B3*/Solute Carrier Organic Anion Transporter Family Member 1B3*/genetics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods; Humans

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 715-719.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis].

  • Authors : Xi H; Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China. , .; Liu Q

Subjects: alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/genetics ; alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/diagnosis ; Genetic Counseling*

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 669-676.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.

  • Authors : Oliva R; Department of Women's and Child Health and Public Health Sciences, Obstetrics and Gynecology, Università Cattolica del Sacro Cuore - Campus di Roma, Roma, Italy.; Grassi S

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/legislation & jurisprudence ; Genetic Testing*/Genetic Testing*/Genetic Testing*/economics; Humans

  • Source: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society [Int J Gynecol Cancer] 2024 Jun 03; Vol. 34 (6), pp. 935-941. Date ofPublisher: BMJ Country of Publication: England NLM ID: 9111626 Publication Model: Electronic Cited Medium: Internet ISSN: 1525-1438 (Electronic)

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Academic Journal

Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications.

  • Authors : Godley LA; Robert H. Lurie Comprehensive Cancer Center, Division of Hematology/Oncology, Northwestern University, Chicago, IL.; DiNardo CD

Subjects: Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/genetics ; Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/therapy ; Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/diagnosis

  • Source: American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting [Am Soc Clin Oncol Educ Book] 2024 Jun; Vol. 44 (3), pp. e432218.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101233985 Publication Model: Print Cited Medium: Internet

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Academic Journal

Genetic profile of syndromic retinitis pigmentosa in Portugal.

  • Authors : Cortinhal T; Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; Santos C

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/epidemiology

  • Source: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Jun; Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The expanding diagnostic toolbox for rare genetic diseases.

  • Authors : Kernohan KD; CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, CHEO, Ottawa, ON, Canada.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Nature reviews. Genetics [Nat Rev Genet] 2024 Jun; Vol. 25 (6), pp. 401-415. Date of Electronic Publication: 2024 Jan 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

Subjects: Whole Genome Sequencing* ; Intensive Care Units, Neonatal* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63544. Date of Electronic Publication: 2024 Jan 23.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.

  • Authors : Papadopoulou MT; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, Lyon, France.; Muccioli L

Subjects: Genetic Testing* ; Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/diagnosis

  • Source: Epilepsia open [Epilepsia Open] 2024 Jun; Vol. 9 (3), pp. 996-1006. Date of Electronic Publication: 2024 Mar 22.Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Practical guide for the diagnosis and management of primary ciliary dyskinesia.

  • Authors : Takeuchi K; Department of Otorhinolaryngology, Head & Neck Surgery, Mie University, 2-174 Edobashi, Tsu, Mie 514-8507, Japan. Electronic address: .; Abo M

Subjects: Kartagener Syndrome*/Kartagener Syndrome*/Kartagener Syndrome*/diagnosis ; Kartagener Syndrome*/Kartagener Syndrome*/Kartagener Syndrome*/therapy ; Kartagener Syndrome*/Kartagener Syndrome*/Kartagener Syndrome*/genetics

  • Source: Auris, nasus, larynx [Auris Nasus Larynx] 2024 Jun; Vol. 51 (3), pp. 553-568. Date of Electronic Publication: 2024 Mar 27.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 7708170 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  19,935 results for ""Humans""