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.

العلاقة: NFR/187615; http://urn.nb.no/URN:NBN:no-93573Test; 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/10852/90982Test; 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.2020.12.656Test; URN:NBN:no-93573; Fulltext https://www.duo.uio.no/bitstream/handle/10852/90982/1/1-s2.0-S0091674921003456-main.pdfTest

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

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

العلاقة: 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.2020.12.656Test; 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/10138/335007Test; be1e4fd7-58de-4ea3-a8b5-a6dd7c6bad47; 000687104900011

الإتاحة: http://hdl.handle.net/10138/335007Test

المؤلفون: Al-Maskari, Nawal, Mohsin, Jalila, Al-Maani, Amal, Al-Macki, Nabil, Al-Ismaili, Suad

المصدر: Sultan Qaboos University Medical Journal; Vol. 16 No. 1 (2016): February; 86-91 ; 2075-0528

مصطلحات موضوعية: Respiratory Syncytial Virus Infections, Epidemiology, Encephalitis, Hepatitis, Croup, Case Series, Oman

وصف الملف: application/pdf

العلاقة: https://journals.squ.edu.om/index.php/squmj/article/view/2115/2061Test; https://journals.squ.edu.om/index.php/squmj/article/view/2115Test

الإتاحة: https://doi.org/10.18295/squmj.2016.16.01.016Test
https://journals.squ.edu.om/index.php/squmj/article/view/2115Test

المؤلفون: Pinchefsky, Elana, Al-Macki, Nabil, Shevell, Michael

المصدر: European Journal of Paediatric Neurology ; volume 14, issue 4, page 313-319 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2009.09.002Test
https://api.elsevier.com/content/article/PII:S1090379809001573?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379809001573?httpAccept=text/plainTest

المؤلفون: Al-Macki, Nabil, Miller, Steven P., Hall, Nicholas, Shevell, Michael

المصدر: Pediatric Neurology ; volume 41, issue 6, page 399-405 ; ISSN 0887-8994

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2009.06.001Test
https://api.elsevier.com/content/article/PII:S0887899409003154?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0887899409003154?httpAccept=text/plainTest

العنوان البديل: حالات شاذة من الإصابة بالفيروس المخلوي التنفسي (Arabic)

المؤلفون: Al-Maskari, Nawal, Mohsin, Jalila, Al-Maani, Amal, Al-Macki, Nabil, Al-Ismaili, Suad

المصدر: Sultan Qaboos University Medical Journal; Feb2016, Vol. 16 Issue 1, pe86-e91, 6p

مصطلحات موضوعية: RESPIRATORY syncytial virus infections, ENCEPHALITIS, HEPATITIS, JUVENILE diseases, EPIDEMIOLOGY, PATIENTS

المؤلفون: Kossoff, Eric H.¹, Al‐Macki, Nabil², Cervenka, Mackenzie C.¹, Kim, Heung D.³, Liao, Jianxiang⁴, Megaw, Katherine⁵, Nathan, Janak K.⁶, Raimann, Ximena⁷, Rivera, Rocio⁸, Wiemer‐Kruel, Adelheid⁹, Williams, Emma¹⁰, Zupec‐Kania, Beth A.¹¹

المصدر: Epilepsia (Series 4). Sep2015, Vol. 56 Issue 9, p1337-1342. 6p.

مصطلحات موضوعية: *DIET therapy, *KETOGENIC diet, *PEOPLE with epilepsy, *DIETARY supplements, *BLOOD urea nitrogen, *BICARBONATE ions, *THERAPEUTICS

المؤلفون: Al Rashdi, Ismail (AUTHOR), Al Ghafri, Mohammed (AUTHOR), Al Hanshi, Said (AUTHOR), Al Macki, Nabil (AUTHOR)

المصدر: Oman Medical Journal. Sep2011, Vol. 26 Issue 5, p356-358. 3p.

URL: 66820633