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

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

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

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

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

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

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

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

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

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

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

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

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

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Novel variants causing megalencephalic leukodystrophy in Sudanese families von Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A A, Mohammed, Inaam N, Elseed, Maha A, Drunat, Severine, Babai, Arwa, Eltaraifee, Esraa, Elbadi, Iman, Abubaker, Rayan, Mustafa, Doaa, Yahia, Ashraf, Koko, Mahmoud, Osman, Melka, Bakhit, Yousuf, Elshafea, Azza, Alsiddig, Mohamed, Haroun, Sahwah, Lelay, Gurvan, Elsayed, Liena E O, Ahmed, Ammar E, Boespflug-Tanguy, Odile, Dorboz, Imen

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

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

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

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

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

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

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