يعرض 1 - 6 نتائج من 6 نتيجة بحث عن '"Mudassir, Behjat Ul"', وقت الاستعلام: 0.38s تنقيح النتائج
  1. 1
    Academic Journal
    Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.

    المؤلفون: Mudassir, Behjat Ul1 (AUTHOR), Mudassir, Mujaddid2 (AUTHOR), Williams, Jamal B.3 (AUTHOR) jbwillia@buffalo.edu, Agha, Zehra3 (AUTHOR) zehranajam@gmail.com

    المصدر: PLoS ONE. 1/8/2025, Vol. 20 Issue 1, p1-17. 17p.

    مصطلحات موضوعية: *GENETIC disorders, *AMINO acid residues, *PROTEIN genetics, *RNA-binding proteins, *DISABILITIES, *ZINC-finger proteins

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  2. 2
    Academic Journal
    Genetic Heterogeneity in Four Probands Reveals HGSNAT , KDM6B , LMNA and WFS1 Related Neurodevelopmental Disorders.

    المؤلفون: Mudassir, Behjat Ul, Mudassir, Mujaddid, Williams, Jamal B., Agha, Zehra

    المصدر: Biomedicines; Dec2024, Vol. 12 Issue 12, p2736, 14p

    مصطلحات موضوعية: PAKISTANIS, MISSENSE mutation, GENETIC variation, FACIAL abnormalities, GENETIC disorders

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  3. 3
    Academic Journal
    Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

    المؤلفون: Mudassir, Behjat Ul, Alotaibi, Mashael Alhumaidi, Kizilbash, Nadeem, Alruwaili, Daliyah, Alruwaili, Anwar, Alenezi, Modhi, Agha, Zehra

    المصدر: Heliyon ; volume 9, issue 9, page e19718 ; ISSN 2405-8440

    الاتاحة: http://dx.doi.org/10.1016/j.heliyon.2023.e19718
    https://api.elsevier.com/content/article/PII:S2405844023069268?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S2405844023069268?httpAccept=text/plain

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  4. 4
    Academic Journal
    Novel biallelic frameshift in TRPM7 gene causes Hallermann–Streiff syndrome in a consanguineous family: a case report.

    المؤلفون: Mudassir, Behjat Ul, Agha, Zehra

    المصدر: Acta Neurologica Belgica; Feb2024, Vol. 124 Issue 1, p321-324, 4p


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  5. 5
    Periodical
    Novel biallelic frameshift in TRPM7gene causes Hallermann–Streiff syndrome in a consanguineous family: a case report

    المؤلفون: Mudassir, Behjat Ul, Agha, Zehra

    المصدر: Acta neurologica Belgica; February 2024, Vol. 124 Issue: 1 p321-324, 4p


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  6. 6
    Academic Journal
    Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

    المؤلفون: Mudassir, Behjat Ul, Agha, Zehra

    المصدر: Children; Jun2023, Vol. 10 Issue 6, p1027, 10p

    مصطلحات موضوعية: STATURE, CATARACT, PROTEINS, MICROCEPHALY, GENETIC variation, GENETIC disorders, GENETIC testing, CHROMOSOME abnormalities, GENETIC techniques, INTELLECTUAL disabilities, GENEALOGY, SYMPTOMS

    مصطلحات جغرافية: PAKISTAN

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