Hanan AlQudairy - King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia

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论文共 16 篇作者统计合作学者相似作者

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Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1

Hanan AlQudairy,Ruqaiah AlTassan,Rakan Alromayan,Abdullah Alfalah,Omar AlHarbi,Ana Gonzalez-Alvarez,Stefan T. Arold,Namik Kaya

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

引用4浏览0WOS引用

Identification of a Novel SLC25A4 Mutation Causing Cardiomyopathy and Myopathy in a Patient from a Consanguineous Saudi Family

Mazhor Aldosary,Hanan AlQudairy, Noura Alshalan, Mohammad Al Muhaizea,Namik Kaya

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 165-165

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Expanding the Phenotypic and Genotypic Spectrum of GGPS1 Related Congenital Muscular Dystrophy

Ruqaiah Altassan,Hanan Alqudairy, Sarah Aljebreen,Mohammed Almuhaizea,Hindi Al-Hindi,Karla A. Pena-Guerra,Hazem Ghebeh, Amer Almzroua,Albandary Albakheet,Mazhor Aldosary,Dilek Colak,Stefan T. Arold,Namik Kaya

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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Detailed Genetic and Clinical Analysis of a Novel De Novo Variant in HPRT1: Case Report of a Female Patient from Saudi Arabia with Lesch-Nyhan Syndrome

Albandary Al-Bakheet,Hanan AlQudairy,Joud Alkhalifah, Sheikhah Almoaily,Namik Kaya,Zuhair Rahbeeni

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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The Phenotypic Spectrum of PTCD3 Deficiency

Baiba Lace,Eissa Faqeih, Namik Kaya,Zita Krumina,Johannes A Mayr,Ieva Micule,Nathan Thompson Wright,Melanie T Achleitner,Hanan AlQudairy,Sander Pajusalu,Janis Stavusis,Pawel Zayakin,Inna Inashkina

JIMD reportsno. 5 (2024): 297-304

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Novel UBE3B Mutations: Report of Eight Patients with Kaufman Oculocerebrofacial Syndrome with Additional Clinical Findings from a Highly Consanguineous Population

AlBandary Albakheet, Duaa Almuallami,Rawan Almass,Alya Qari,Rosan Kenana,Hanan AlQudairy,Rozeena Huma, Hadeel Binomar,Salma Majid Wakil,Mohammad Alowain,Dilek Colak,Namik Kaya,Moeenaldeen D. AlSayed

CLINICAL DYSMORPHOLOGYno. 2 (2024): 55-62

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Clinical, Radiological, and Genetic Characterization of SLC13A5 Variants in Saudi Families: Genotype Phenotype Correlation and Brief Review of the Literature

Hanan AlQudairy,Hesham Aldhalaan,Sarah AlRuways,Nouf Almutairi,Maha AlNakiyah,Reema AlGhofaili,Albandary Al‐Bakheet, Adeeb Alomrani, Omar Abdullah Alharbi,Ehab Tous, Moeen Al-Sayed,Hamad Alzaidan,Maha Al‐Rasheed,Ali Al‐Odaib, Namik Kaya

Frontiers in pediatrics (2023)

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Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

Hanan AlQudairy,Hesham AlDhalaan,Sarah AlRuways,Nouf AlMutairi,Maha AlNakiyah,Reema AlGhofaili,Albandary AlBakheet, Adeeb Alomrani,Omar A. Alharbi,Ehab Tous,Moeen AlSayed,Hamad AlZaidan,Maha M. AlRasheed,Ali AlOdaib,Namik Kaya

FRONTIERS IN PEDIATRICS（2023）

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng,Eva Medico-Salsench,Anita Nikoncuk,Reshmi Ramakrishnan,Kristina Lanko,Nikolas A. Kühn,Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi,Soheil Yousefi,Ivan Capo,Evita Medici van den Herik,Marjon van Slegtenhorst,Rick van Minkelen,Geert Geeven,Monique T. Mulder,George J. G. Ruijter,Dieter Lütjohann,Edwin H. Jacobs,Henry Houlden,Alistair T. Pagnamenta,Kay Metcalfe,Adam Jackson,Siddharth Banka,Lenika De Simone,Abigail Schwaede,Nancy Kuntz,Timothy Blake Palculict,Safdar Abbas,Muhammad Umair,Mohammed AlMuhaizea,Dilek Colak,Hanan AlQudairy,Maysoon Alsagob,Catarina Pereira,Roberta Trunzo,Vasiliki Karageorgou,Aida M. Bertoli-Avella,Peter Bauer,Arjan Bouman,Lies H. Hoefsloot,Tjakko J. van Ham,Mahmoud Issa,Maha S. Zaki,Joseph G. Gleeson,Rob Willemsen,Namik Kaya,Stefan T. Arold,Reza Maroofian,Leslie E. Sanderson,Tahsin Stefan Barakat

Acta neuropathologica（2023）

引用1浏览0WOS引用

A novel homoallelic founder variant of RTN4IP1 in a consanguineous population

Mazhor Aldosary,Hanan AlQudairy, Rawan Almas,Albandary Al-Bakheet,Maysoon AlSagob,Alya Qari,Saif Alshahrani,Dilek Colak,Moeen Al-Sayed,Mohammed Alowain,Robert Taylor,Namik Kaya

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 155-155

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