المؤلفون: Al‐Thihli, Khalid, Al Hashmi, Nadia, Al Balushi, Aaisha, Al‐Habsi, Asila, Al‐Ajmi, Eiman, Al‐Jasmi, Fatma, Al‐Murshedi, Fathiya

المصدر: JIMD Reports ; volume 65, issue 4, page 226-232 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12426
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12426

المؤلفون: Al Jabry, Tariq, Al-Hashmi, Nadia, Abdelhadi, Basem, Al-Maawali, Almundher

المساهمون: Sultan Qaboos University, His Majesty’s Trust Fund

المصدر: European Journal of Medical Genetics ; volume 67, page 104903 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2023.104903
https://api.elsevier.com/content/article/PII:S1769721223002094?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721223002094?httpAccept=text/plain

المؤلفون: Al Riyami, Mohamed S., Al Alawi, Intisar, Al Gaithi, Badria, Al Maskari, Anisa, Al Kalbani, Naifain, Al Hashmi, Nadia, Al Balushi, Aisha, Al Shahi, Maryam, Al Saidi, Suliman, Al Bimani, Muna, Al Hatali, Fahad, Mabillard, Holly, Sayer, John A.

المساهمون: Kidney Research UK, Medical Research Council, Northern Counties Kidney Research Fund

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 9 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.2201
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2201

المؤلفون: Al-Hassnan, Zuhair, Al Hashmi, Nadia, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Al Teneiji, Amal

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: https://doi.org/10.1186/s13023-023-02967-0
https://link.springer.com/content/pdf/10.1186/s13023-023-02967-0.pdf
https://link.springer.com/article/10.1186/s13023-023-02967-0/fulltext.html

المؤلفون: Al Busaidi, Marwa, Mohamed, Feda E., Al-Ajmi, Eiman, Al Hashmi, Nadia, Al-Thihli, Khalid, Al Futaisi, Amna, Al Mamari, Watfa, Al-Murshedi, Fathiya, Al-Jasmi, Fatma

المساهمون: the technology program management pillar of Abu Dhabi’s Advanced Technology Research Council (ATRC), the ASPIRE

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02946-5
https://link.springer.com/content/pdf/10.1186/s13023-023-02946-5.pdf
https://link.springer.com/article/10.1186/s13023-023-02946-5/fulltext.html

المؤلفون: Inoue, Michio, Jayaraman, Divya, Bengoechea, Rocio, Bhadra, Ankan, Genetti, Casie A., Aldeeri, Abdulrahman A., Turan, Betül, Pacheco-Orozco, Rafael Adrian, Al-Maawali, Almundher, Al Hashmi, Nadia, Zamani, Ayşe Gül, Göktaş, Emine, Pekcan, Sevgi, Çağlar, Hanife Tuğçe, True, Heather, Beggs, Alan H., Weihl, Conrad C.

المصدر: Acta Neuropathologica Communications; 10/28/2024, Vol. 12 Issue 1, p1-10, 10p

مصطلحات موضوعية: HEAT shock proteins, MISSENSE mutation, MUSCLE weakness, RESPIRATORY insufficiency, MOLECULAR chaperones

المؤلفون: Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Tapiainen, Terhi, Åström, Pirjo, Mamia, Katariina Aino Inkeri, Pernaa, Nora, Lehtonen, Johanna Marianna, Glumoff, Virpi, Rahikkala, Elisa, Honkila, Minna, Olsén, Päivi, Hassinen, Antti, Polso, Minttu, Al Sukati, Nashat, Al Shekaili, Jalila, Al Kindi, Mahmood, Al Hashmi, Nadia, Almusa, Henrikki, Bulanova, Daria, Haapaniemi, Emma Maria, Chen, Pu, Suo-Palosaari, Maria, Vieira, Paivi, Tuominen, Hannu, Kokkonen, Hannaleena, Al Macki, Nabil, Al Habsi, Huda, Löppönen, Tuija, Rantala, Heikki, Pietiäinen, Vilja, Zhang, Shen-Ying, Renko, Marjo, Hautala, Timo, Al Farsi, Tariq, Uusimaa, Johanna, Saarela, Janna Saija

المصدر: 0091-6749.

Relation: NFR/187615; http://urn.nb.no/URN:NBN:no-93573; Kaustio, Meri Nayebzadeh, Naemeh Hinttala, Reetta Tapiainen, Terhi Åström, Pirjo Mamia, Katariina Aino Inkeri Pernaa, Nora Lehtonen, Johanna Marianna Glumoff, Virpi Rahikkala, Elisa Honkila, Minna Olsén, Päivi Hassinen, Antti Polso, Minttu Al Sukati, Nashat Al Shekaili, Jalila Al Kindi, Mahmood Al Hashmi, Nadia Almusa, Henrikki Bulanova, Daria Haapaniemi, Emma Maria Chen, Pu Suo-Palosaari, Maria Vieira, Paivi Tuominen, Hannu Kokkonen, Hannaleena Al Macki, Nabil Al Habsi, Huda Löppönen, Tuija Rantala, Heikki Pietiäinen, Vilja Zhang, Shen-Ying Renko, Marjo Hautala, Timo Al Farsi, Tariq Uusimaa, Johanna Saarela, Janna Saija . Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. Journal of Allergy and Clinical Immunology. 2021; http://hdl.handle.net/10852/90982; 1989338; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal of Allergy and Clinical Immunology&rft.volume=&rft.spage=&rft.date=2021; Journal of Allergy and Clinical Immunology; 148; 599; 611; https://doi.org/10.1016/j.jaci.2020.12.656; URN:NBN:no-93573; Fulltext https://www.duo.uio.no/bitstream/handle/10852/90982/1/1-s2.0-S0091674921003456-main.pdf

الاتاحة: http://hdl.handle.net/10852/90982
http://urn.nb.no/URN:NBN:no-93573
https://doi.org/10.1016/j.jaci.2020.12.656

المؤلفون: Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid

المصدر: Journal of Community Genetics ; volume 13, issue 3, page 303-311 ; ISSN 1868-310X 1868-6001

الاتاحة: http://dx.doi.org/10.1007/s12687-022-00584-1
https://link.springer.com/content/pdf/10.1007/s12687-022-00584-1.pdf
https://link.springer.com/article/10.1007/s12687-022-00584-1/fulltext.html

المؤلفون: Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Tapiainen, Terhi, Astrom, Pirjo, Mamia, Katariina, Pernaa, Nora, Lehtonen, Johanna, Glumoff, Virpi, Rahikkala, Elisa, Honkila, Minna, Olsen, Paivi, Hassinen, Antti, Polso, Minttu, Al Sukaiti, Nashat, Al Shekaili, Jalila, Al Kindi, Mahmood, Al Hashmi, Nadia, Almusa, Henrikki, Bulanova, Daria, Haapaniemi, Emma, Chen, Pu, Suo-Palosaari, Maria, Vieira, Paivi, Tuominen, Hannu, Kokkonen, Hannaleena, Al Macki, Nabil, Al Habsi, Huda, Löppönen, Tuija, Rantala, Heikki, Pietiäinen, Vilja, Zhang, Shen-Ying, Renko, Marjo, Hautala, Timo, Al Farsi, Tariq, Uusimaa, Johanna, Saarela, Janna

المساهمون: Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Precision Systems Medicine, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Janna Saarela / Principal Investigator, HUSLAB

مصطلحات موضوعية: DIAPH1, SCBMS, microcephaly, mitochondrial dysfunction, T cells, immunodeficiency, T-CELL-ACTIVATION, FORMIN, MDIA1, POLARIZATION, MUTATIONS, MIGRATION, HOMOLOG, PROTEIN, ROCK, RHOA, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland, Finland (decision nos. RH: 317711, 266498, 273790), Ester and Uuno Kokki Foundation, Finland; the Finnish Cultural Foundation, Finland; The Foundation for Pediatric Research, Finland; the Alma and KA Snellman Foundation, Finland; and Special State Grants for Health Research at the Oulu University Hospital, Finland (grant no. VTR K56772).; Kaustio , M , Nayebzadeh , N , Hinttala , R , Tapiainen , T , Astrom , P , Mamia , K , Pernaa , N , Lehtonen , J , Glumoff , V , Rahikkala , E , Honkila , M , Olsen , P , Hassinen , A , Polso , M , Al Sukaiti , N , Al Shekaili , J , Al Kindi , M , Al Hashmi , N , Almusa , H , Bulanova , D , Haapaniemi , E , Chen , P , Suo-Palosaari , M , Vieira , P , Tuominen , H , Kokkonen , H , Al Macki , N , Al Habsi , H , Löppönen , T , Rantala , H , Pietiäinen , V , Zhang , S-Y , Renko , M , Hautala , T , Al Farsi , T , Uusimaa , J & Saarela , J 2021 , ' Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction ' , Journal of Allergy and Clinical Immunology , vol. 148 , no. 2 , pp. 599-611 . https://doi.org/10.1016/j.jaci.2020.12.656; ORCID: /0000-0002-0853-6219/work/101082031; ORCID: /0000-0003-3125-2406/work/101082209; ORCID: /0000-0001-9491-2868/work/101084296; http://hdl.handle.net/10138/335007; be1e4fd7-58de-4ea3-a8b5-a6dd7c6bad47; 000687104900011

الاتاحة: http://hdl.handle.net/10138/335007

المؤلفون: Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1551-1568 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01159-0
https://www.nature.com/articles/s41436-021-01159-0.pdf
https://www.nature.com/articles/s41436-021-01159-0
https://api.elsevier.com/content/article/PII:S1098360021050656?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050656?httpAccept=text/plain

المؤلفون: Kumar, Vikram, Gautam, Vipul, Agarwal, Shaleen, Pandey, Vijaykant, Goyal, Sumit, Nasa, Vaibhav, Singh, Shweta A., Al‐Thihli, Khalid, Al‐Murshedi, Fathiya, Al Hashmi, Nadia, Al Rawahi, Yusriya, Al‐Bahlani, Al‐Qasim, Al Said, Khoula, Gupta, Subhash

المصدر: Pediatric Transplantation; Dec2023, Vol. 27 Issue 8, p1-9, 9p

مصطلحات موضوعية: URINALYSIS, LIVER transplantation, GLYCOGEN storage disease, GRAFT survival, METABOLIC disorders

المؤلفون: Al Balushi, Aaisha, Al Hinai, Mariya, Al Hosni, Alya, Al Amrani, Fatima, Al Maimani, Ashwaq, Al Maki, Nabil, Al Hashmi, Nadia

المصدر: Journal of Pediatric Genetics ; volume 13, issue 03, page 175-180 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0043-1764127
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1764127.pdf

المؤلفون: Al Shidhani, Azza, Al Hinai, Abdulhamid, Al Thihli, Khalid, Al Mandhari, Hilal, Al Yaarubi, Saif, Ullah, Irfan, Al-Hashmi, Nadia, Al Murshedi, Fathiya

المصدر: Journal of Clinical Research in Pediatric Endocrinology; Sep2023, Vol. 15 Issue 3, p302-306, 5p

مصطلحات موضوعية: HIGH performance liquid chromatography, BRANCHED chain amino acids, GENETIC mutation, HYPERINSULINISM, GENETIC testing, MAPLE syrup urine disease, INSULIN, PANCREATECTOMY, TREATMENT effectiveness, HYPOGLYCEMIA, MASS spectrometry, C-peptide, CHILDREN

المؤلفون: Al-Thihli, Khalid, Al-Murshedi, Fathiya, Al-Hashmi, Nadia, Al-Mamari, Watfa, Islam, M. Mazharul, Al-Yahyaee, Said A.

المصدر: Human Heredity, 2014 Jan 01. 77(1/4), 183-188.

URL الوصول: https://www.jstor.org/stable/48514275

المؤلفون: Al-Lawati, Moosa, Al-Khaldi, Zuha, Chettali, Akbar Mohamed, Al-Hinai, Mariya, Al-Mazrooey, Hiba, Al-Ajmi, Ali, Al-Harasi, Salma, Al-Hashmi, Nadia

المصدر: Journal of Biochemical & Clinical Genetics; 2023, Vol. 6 Issue 2, p133-137, 5p

مصطلحات موضوعية: PEOPLE with epilepsy, BRAIN diseases, PROGNOSIS, GENE therapy, GENETIC variation, GENETIC disorders

مصطلحات جغرافية: OMAN

المؤلفون: Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 8, page 2485-2490 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62778
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62778
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62778

المؤلفون: Shuaib, Taghreed, Al-Hashmi, Nadia, Ghaziuddin, Mohammad, Megdad, Eman, Abebe, Dejene, Al-Saif, Amr, Doubi, Alaa, Aldhalaan, Hesham, Abouzied, Mohei Eldin, Al-Owain, Mohammed

المصدر: Journal of Child Neurology ; volume 27, issue 6, page 799-803 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073811426929
https://journals.sagepub.com/doi/pdf/10.1177/0883073811426929
https://journals.sagepub.com/doi/full-xml/10.1177/0883073811426929

المؤلفون: Al‐Thihli, Khalid, Afting, Cassian, Al‐Hashmi, Nadia, Mohammed, Mohammed, Sliwinski, Svenja, Al Shibli, Naema, Al‐Said, Khoula, Al‐Kasbi, Ghalia, Al‐Kharusi, Khalsa, Merle, Uta, Füllekrug, Joachim, Al‐Maawali, Almundher

المساهمون: Deutsche Forschungsgemeinschaft, Sultan Qaboos University

المصدر: Clinical Genetics ; volume 99, issue 3, page 376-383 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13883
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13883
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13883

المؤلفون: Shanmugam, Naresh P., Valamparampil, Joseph J., Reddy, Mettu Srinivas, Al Said, Khoula Julenda, Al-Thihli, Khalid, Al-Hashmi, Nadia, Al-Jishi, Emtithal, Isa, Hasan Mohamed Ali, Jalan, Anil B., Rela, Mohamed

المصدر: JIMD Reports ; JIMD Reports, Volume 45 ; page 29-36 ; ISSN 2192-8304 2192-8312 ; ISBN 9783662586464 9783662586471

الاتاحة: http://dx.doi.org/10.1007/8904_2018_137
http://link.springer.com/content/pdf/10.1007/8904_2018_137

المؤلفون: Mohammed, Mohammed, Al-Hashmi, Nadia, Al-Rashdi, Samiya, Al-Sukaiti, Nashat, Al-Adawi, Kawther, Al-Riyami, Marwa, Al-Maawali, Almundher

المساهمون: His Majesty Trust Funds at the Sultan Qaboos University

المصدر: European Journal of Medical Genetics ; volume 62, issue 11, page 103583 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2018.11.017
https://api.elsevier.com/content/article/PII:S1769721218305986?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721218305986?httpAccept=text/plain