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Academic Journal

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

  • Authors : Farooqi N; Department of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University, Mardan 23200, Pakistan.; Metherell LA

Subjects: Genetic Predisposition to Disease* ; Mutation*; Cardiomyopathies/Cardiomyopathies/Cardiomyopathies/*pathology

  • Source: Genes [Genes (Basel)] 2021 Nov 28; Vol. 12 (12). Date of Electronic Publication: 2021 Nov 28.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?

  • Authors : Farah S; Neurology Department, Ibn Sina Hospital, Kuwait.; Sabry MA

Subjects: Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics ; Microcephaly/Microcephaly/Microcephaly/*genetics

  • Source: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 1997 Feb; Vol. 99 (1), pp. 66-70.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print Cited Medium: Print ISSN: 0303-8467 (Print)

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Academic Journal

Nosology of genetic skeletal disorders, Pakistan: an updated review.

Subjects: NOSOLOGY; RESOURCE-limited settings; GERMPLASMPAKISTAN

  • Source: Journal of Biochemical & Clinical Genetics; 2023, Vol. 6 Issue 2, p106-118, 13p

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Academic Journal

Mounier Kuhn Syndrome.

Subjects: RESPIRATORY infections; ETIOLOGY of diseases; SYMPTOMSPAKISTAN

  • Source: Pakistan Journal of Chest Medicine; 2020, Vol. 26 Issue 1, p40-42, 3p

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  • 1-10 of  18 results for ""MARFAN syndrome""