Faqeih Eissa - Dept Pediat, King Fahad Med City

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论文共 163 篇作者统计合作学者相似作者

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CffDNA Screening for Niemann-pick Disease, Type C1: a Case Series

Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer,Nouf M. Alajaji,Eissa Faqeih, Yanchun Li,Yanming Feng,Fan Xia,Christine M. Eng,Malak Abedalthagafi

FRONTIERS IN MEDICINE (2024)

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Genotype and Phenotype Characteristics of Osteogenesis Imperfecta in Saudi Arabia

Anwar Alhamad,Eissa Ali Faqeih, Mohammed Alamin,Mohammed Saleh,Ali Alasmari,Aziza Mushiba,Manar Samman, Mohammed Bamajboor

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Bi-allelic Genetic Variants in the Translational GTPases GTPBP1 and GTPBP2 Cause a Distinct Identical Neurodevelopmental Syndrome

Vincenzo Salpietro,Reza Maroofian,Maha S. Zaki,Jamie Wangen,Andrea Ciolfi,Sabina Barresi,Stephanie Efthymiou,Angelique Lamaze,Gabriel N. Aughey,Fuad Al Mutairi,Aboulfazl Rad,Clarissa Rocca,Elisa Cali,Andrea Accogli,Federico Zara,Pasquale Striano,Majid Mojarrad,Huma Tariq,Edoardo Giacopuzzi,Jenny C. Taylor,Gabriela Oprea,Volha Skrahina,Khalil Ur Rehman,Marwa Abd Elmaksoud,Mahmoud Bassiony,Huda G. El Said,Mohamed S. Abdel-Hamid,Maha Al Shalan,Gohun Seo, Sohyun Kim,Hane Lee,Rin Khang,Mahmoud Y. Issa,Hasnaa M. Elbendary,Karima Rafat,Nikolaos M. Marinakis,Joanne Traeger-Synodinos,Athina Ververi, Mara Sourmpi,Atieh Eslahi, Farhad Khadivi Zand,Mehran Beiraghi Toosi,Meisam Babaei,Adam Jackson,Aida Bertoli-Avella,Alistair T. Pagnamenta,Marcello Niceta,Roberta Battini,Antonio Corsello,Chiara Leoni,Francesco Chiarelli,Bruno Dallapiccola,Eissa Ali Faqeih, Krishnaraya K. Tallur,Majid Alfadhel,Eman Alobeid,Sateesh Maddirevula,Kshitij Mankad,Siddharth Banka,Ehsan Ghayoor-Karimiani,Marco Tartaglia,Wendy K. Chung,Rachel Green,Fowzan S. Alkuraya,James E. C. Jepson,Henry Houlden

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)

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Clinical Exome Sequencing Data from Patients with Inborn Errors of Immunity: Cohort Level Diagnostic Yield and the Benefit of Systematic Reanalysis

Emil E. Vorsteveld,Caspar I. Van der Made,Sanne P. Smeekens,Janneke H. Schuurs-Hoeijmakers,Galuh Astuti, Heleen Diepstra,Christian Gilissen, Evelien Hoenselaar, Alice Janssen,Kees van Roozendaal,Jettie Sikkema-van Engelen,Wouter Steyaert,Marjan M. Weiss,Helger G. Yntema,Tuomo Mantere,Mofareh S. Alzahrani,Koen van Aerde,Beata Derfalvi,Eissa Ali Faqeih,Stefanie S. V. Henriet, Elise van Hoof, Eman Idressi,Thomas B. Issekutz,Marjolijn C. J. Jongmans,Riikka Keski-Filppula,Ingrid Krapels,Maroeska te Loo,Catharina M. Mulders-Manders,Jaap ten Oever,Judith Potjewijd, Nora Tarig Sarhan, Marjan C. Slot,Paulien A. Terhal, Herman Thijs,Anthony Vandersteen,Els K. Vanhoutte,Frank van de Veerdonk,Gijs van Well,Mihai G. Netea,Annet Simons,Alexander Hoischen

CLINICAL IMMUNOLOGY (2024)

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Kinesin Family Member 12-Related Hepatopathy: A Generally Indolent Disorder with Elevated Gamma-Glutamyl-transferase Activity

Georg-Friedrich Vogel,Alexandra Podpeskar,Dietmar Rieder, Helin Salzer,Dorota Garczarczyk-Asim,Li Wang,Kuerbanjiang Abuduxikuer,Jian-She Wang,Anke Scharrer,Eissa Ali Faqeih, Ali T. Aseeri,Julia Vodopiutz,Andreas Heilos,Judith Pichler,Wolf-Dietrich Huber,Thomas Mueller,A. S. Knisely,Andreas R. Janecke

Clinical 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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Incidence of Inborn Errors of Metabolism and Endocrine Disorders among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia

Abdullah S. Alshehri, Abdul A. Peer-Zada, Abeer A. Algadhi, Abdulwahed Aldehaimi, Mohammed A. Saleh,Aziza M. Mushiba,Eissa A. Faqeih,Ali M. Alasmari

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 4 (2024)

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Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations

Sateesh Maddirevula,Mohammad Shagrani, Ae-Ri Ji,Christopher R. Horne,Samuel N. Young, Lucy J. Mather,Mashael Alqahtani,Colin McKerlie, Geoffrey Wood,Paul K. Potter,Firdous Abdulwahab,Tarfa AlSheddi,Wendy L. van der Woerd,Koen L. I. van Gassen, Dalal Albogami,Kishwer Kumar,Ali Syed Muhammad Akhtar, Hiba Binomar,Hadeel Almanea,Eissa Faqeih,Sabine A. Fuchs,John W. Scott,James M. Murphy,Fowzan S. Alkuraya

GENETICS IN MEDICINEno. 11 (2024)

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Human ABL1 Deficiency Syndrome (HADS) is a Recognizable Syndrome Distinct from ABL1-related Congenital Heart Defects and Skeletal Malformations Syndrome

Lama AlAbdi,Teresa Neuhann,Eva-Christina Prott, Ulrike Schön,Firdous Abdulwahab,Eissa Faqeih,Fowzan S. Alkuraya

Human Geneticspp.1-7, (2024)

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