Hasil Pencarian - Isabelle Schrauwen

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  1. 1
    A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

    A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes oleh Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen

    Diterbitkan 2019-01-01
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  2. 2
    Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

    Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus oleh Tianwei Qian, Qiaoyun Gong, Hangqi Shen, Caihua Li, Gao Wang, Xun Xu, Isabelle Schrauwen, Weijun Wang

    Diterbitkan 2022-02-01
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  3. 3
    A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

    A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus oleh Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu

    Diterbitkan 2021-10-01
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  4. 4
    The genetic contribution of the X chromosome in age-related hearing loss

    The genetic contribution of the X chromosome in age-related hearing loss oleh Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal, Suzanne M. Leal

    Diterbitkan 2023-02-01
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  5. 5
    Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1; referees: 2 approved]

    Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1... oleh Mohan Narayanan, Keri Ramsey, Theresa Grebe, Isabelle Schrauwen, Szabolcs Szelinger, Matthew Huentelman, David Craig, Vinodh Narayanan, C4RCD Research Group

    Diterbitkan 2015-09-01
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  6. 6
    Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

    Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders oleh Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen

    Diterbitkan 2021-12-01
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  7. 7
    Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

    Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant oleh Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal

    Diterbitkan 2022-03-01
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  8. 8
    A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

    A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss oleh Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen

    Diterbitkan 2019-12-01
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  9. 9
    Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

    Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment oleh Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

    Diterbitkan 2018-07-01
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  10. 10
    A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

    A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana oleh Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam

    Diterbitkan 2022-11-01
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  11. 11
    Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

    Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders oleh Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä

    Diterbitkan 2024-05-01
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  12. 12
    Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

    Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. oleh Szabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, Ashley L Siniard, Ahmet A Kurdoglu, Keri M Ramsey, Isabelle Schrauwen, Jeffrey M Trent, Vinodh Narayanan, Matthew J Huentelman, David W Craig

    Diterbitkan 2014-01-01
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  13. 13
    A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

    A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family oleh Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

    Diterbitkan 2022-07-01
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  14. 14
    Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

    Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies oleh Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo‐Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan

    Diterbitkan 2020-10-01
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  15. 15
    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. oleh Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman

    Diterbitkan 2015-01-01
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  16. 16
    Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

    Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease oleh Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova, Matthew J. Huentelman

    Diterbitkan 2020-06-01
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  17. 17
    Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors

    Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors oleh Joshua S Talboom, Asta Håberg, Matthew D De Both, Marcus A Naymik, Isabelle Schrauwen, Candace R Lewis, Stacy F Bertinelli, Callie Hammersland, Mason A Fritz, Amanda J Myers, Meredith Hay, Carol A Barnes, Elizabeth Glisky, Lee Ryan, Matthew J Huentelman

    Diterbitkan 2019-06-01
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  18. 18
    Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

    Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds. oleh Isabelle Schrauwen, Renee M Barber, Scott J Schatzberg, Ashley L Siniard, Jason J Corneveaux, Brian F Porter, Karen M Vernau, Rebekah I Keesler, Kaspar Matiasek, Thomas Flegel, Andrew D Miller, Teresa Southard, Christopher L Mariani, Gayle C Johnson, Matthew J Huentelman

    Diterbitkan 2014-01-01
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  19. 19
    Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

    Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... oleh Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen

    Diterbitkan 2017-04-01
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  20. 20
    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects oleh Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

    Diterbitkan 2024-01-01
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