Hasil Pencarian - Mutaz Amin

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  1. 1
    Genome-wide linkage and association of novel genes and pathways with type 2 diabetes in Italian families

    Genome-wide linkage and association of novel genes and pathways with type 2 diabetes in Italian families oleh Mutaz Amin, Claudia Gragnoli

    Diterbitkan 2024-12-01
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  2. 2
    The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome

    The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome oleh Mutaz Amin, Claudia Gragnoli

    Diterbitkan 2023-11-01
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  3. 3
    Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome

    Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome oleh Mutaz Amin, Nicholas Horst, Claudia Gragnoli

    Diterbitkan 2023-08-01
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  4. 4
    Novel Risk Variants in the Oxytocin Receptor Gene (<i>OXTR</i>) Possibly Linked to and Associated with Familial Type 2 Diabetes

    Novel Risk Variants in the Oxytocin Receptor Gene (<i>OXTR</i>) Possibly Linked to and Associated with Familial Type 2 Diabetes oleh Mutaz Amin, Rongling Wu, Claudia Gragnoli

    Diterbitkan 2023-03-01
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  5. 5
    Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome

    Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome oleh Mutaz Amin, Nicholas Horst, Rongling Wu, Claudia Gragnoli

    Diterbitkan 2023-08-01
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  6. 6
    The prolactin receptor (PRLR) gene is linked to and associated with the comorbidity of depression and type 2 diabetes in Italian families

    The prolactin receptor (PRLR) gene is linked to and associated with the comorbidity of depression and type 2 diabetes in Italian families oleh Mutaz Amin, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

    Diterbitkan 2024-05-01
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  7. 7
    Novel linkage and association of the mineralocorticoid receptor gene (NR3C2) with familial type 2 diabetes and depression and their comorbidity

    Novel linkage and association of the mineralocorticoid receptor gene (NR3C2) with familial type 2 diabetes and depression and their comorbidity oleh Mutaz Amin, Shumail Syed, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

    Diterbitkan 2023-01-01
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  8. 8
    Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

    Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data oleh Mahmoud Koko, Mohammed O. E. Abdallah, Mutaz Amin, Muntaser Ibrahim

    Diterbitkan 2018-01-01
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  9. 9
    P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database

    P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database oleh Mutaz Amin, Samantha Baxter, Kaitlin Samocha, Anne O'Donnell-Luria

    Diterbitkan 2024-01-01
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  10. 10
    Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression

    Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression oleh Mutaz Amin, Jurg Ott, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

    Diterbitkan 2022-07-01
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  11. 11
    The role of melatonin receptor 1B gene (MTNR1B) in the susceptibility to depression and type 2 diabetes comorbidity

    The role of melatonin receptor 1B gene (MTNR1B) in the susceptibility to depression and type 2 diabetes comorbidity oleh Mutaz Amin, Benjamin Rafla, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

    Diterbitkan 2024-05-01
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  12. 12
    Familial Linkage and Association of the <i>NR3C1</i> Gene with Type 2 Diabetes and Depression Comorbidity

    Familial Linkage and Association of the <i>NR3C1</i> Gene with Type 2 Diabetes and Depression Comorbidity oleh Mutaz Amin, Shumail Syed, Rongling Wu, Teodor Tudorel Postolache, Claudia Gragnoli

    Diterbitkan 2022-10-01
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  13. 13
    Comorbidity of Novel <i>CRHR2</i> Gene Variants in Type 2 Diabetes and Depression

    Comorbidity of Novel <i>CRHR2</i> Gene Variants in Type 2 Diabetes and Depression oleh Mutaz Amin, Jurg Ott, Derek Gordon, Rongling Wu, Teodor T. Postolache, Michael Vergare, Claudia Gragnoli

    Diterbitkan 2022-08-01
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  14. 14
    Molecular Evidence of High Proportion of Plasmodium vivax Malaria Infection in White Nile Area in Sudan

    Molecular Evidence of High Proportion of Plasmodium vivax Malaria Infection in White Nile Area in Sudan oleh Makarim M. Adam Suliman, Bushra M. Hamad, Musab M. Ali Albasheer, Maytha Elhadi, Mutaz Amin Mustafa, Maha Elobied, Muzamil Mahdi Abdel Hamid

    Diterbitkan 2016-01-01
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  15. 15
    P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates*

    P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates* oleh Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Mutaz Amin, Carmen Glaze, Riley Grant, Josephine Lee, Nick Watts, Michael Wilson, Heidi Rehm, Anne O'Donnell-Luria

    Diterbitkan 2024-01-01
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  16. 16
    Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

    Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan oleh Mutaz Amin, Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Rayan Abubaker, Yousuf Bakhit, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Imen Dorboz, Imen Dorboz

    Diterbitkan 2022-06-01
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  17. 17
    Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

    Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report oleh Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin

    Diterbitkan 2018-10-01
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  18. 18
    Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

    Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family oleh Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin

    Diterbitkan 2018-05-01
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  19. 19
    A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

    A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability oleh Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz

    Diterbitkan 2022-11-01
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  20. 20
    P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

    P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions oleh Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

    Diterbitkan 2023-01-01
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