Aisha M. Alshamsi

基本信息

Career Trajectory

Bio

Skills and Expertise
Inborn Errors of Metabolism
Mutation
Newborn Screening
Metabolic Diseases
Clinical Genetics
Congenital Abnormalities
Lipid Metabolism
Human Genetics
Human Molecular Genetics
Genetic Analysis

Research Interests

Papers共 63 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review

Abdulqader Al Zubaidi,Aisha Al-Shamsi

Journal of Pediatric Genetics (2024)

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Profiling Genetic Variants in Cardiovascular Disease Genes among a Heterogeneous Cohort of Mendelian Conditions Patients and Electronic Health Records

Nadia Akawi, Ghadeera Al Mansoori,Anwar Al Zaabi, Andrea Badics,Noura Al Dhaheri,Aisha Al Shamsi,Amal Al Tenaiji, Bashar Alzohily, Fatmah S. A. Almesmari, Hamad Al Hammadi,Nahid Al Dhahouri, Manal Irshaid,Praseetha Kizhakkedath, Fatema Al Shibli,Mohammed Tabouni,Mushal Allam,Ibrahim Baydoun,Hiba Alblooshi,Bassam R. Ali,Roger S. Foo,Fatma Al Jasmi

FRONTIERS IN MOLECULAR BIOSCIENCES (2024)

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FBXO22 Deficiency Defines a Pleiotropic Syndrome of Growth Restriction and Multi-System Anomalies Associated with a Unique Epigenetic Signature

Navin B. Ramakrishna,Yoshikazu Johmura,Nur Ain Ali, Umar B Mohamad Sahari,Malak Alghamdi,Peter Bauer,Suliman Khan,Natalia Ordonez,Mariana Ferreira,Jorge Pinto Basto,Fowzan S Alkuraya, Eissa Ali Faqeih, Mari Mori,Naif AM Almontashiri,Aisha Al Shamsi, Gehad ElGhazali, Hala Abu Subieh,Mode Al Ojaimi,Ayman W. El-Hattab, Said Ahmed Said Al-Kindi,Nadia Alhashmi, Fahad Alhabshan, Abdulaziz Al Saman, Hala Tfayli, Mariam Arabi, Simone Khalifeh,Alan Taylor,Majid Alfadhel,Ruchi Jain, Shruti Sinha,Shruti Shenbagam,Revathy Ramachandran, Umut Altunoglu,Anju Jacob,Nandu Thalange, Jay W Shin,Almundher Al-Maawali, Azza Al-Shidhani,Amna Al-Futaisi,Fatma Rabea, Ikram Chekroun, Mohamed Al Marri,Tomohiko Ohta,Makoto Nakanishi,Alawi Alsheikh-Ali,Fahad R Ali, Aida M Bertoli-Avella,Bruno Reversade,Ahmad N Abou Tayoun

crossref（2024）

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A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Abdulqader Al Zubaidi,Noura Al Hassani,Raya Almazrouei,Aisha AlShamsi

Journal of Diabetes and Endocrine Practice (2024)

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Carbamoly-phosphate Synthetase 1 (CPS1) Deficiency: A Tertiary Center Retrospective Cohort Study and Literature Review

Mahmood Noori, Omar Jarrah,Aisha Al Shamsi

Molecular Genetics and Metabolism Reports (2024): 101156

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Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3

Pablo Iruzubieta,Cesar Augusto Pinheiro Ferreira Alves,Aisha M. Al Shamsi,Gehad Elghazali,Maha S. Zaki,Lorenzo Pinelli,Diego Lopergolo,Bernard P. H. Cho,Amy A. Jolly,Amna Al Futaisi,Fatema Al-Amrani,Jessica Galli,Elisa Fazzi, Katarina Vulin,Francisco Barajas-Olmos,Holger Hengel, Bayan Mohammed Aljamal,Vahideh Nasr,Farhad Assarzadegan,Michele Ragno,Luigi Trojano, Naomi Meave Ojeda,Arman Cakar,Silvia Bianchi,Francesca Pescini,Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad,Aziza Chedrawi,Nicola De Stefano,Giovanni Zifarelli,Ludger Schoels,Tobias B. Haack,Adriana Rebelo,Stephan Zuchner,Filiz Koc, Lyn R. Griffiths,Lorena Orozco, Karla Garcia Helmes,Meisam Babaei,Peter Bauer,Won Chan Jeong,Ehsan Ghayoor Karimiani,Miriam Schmidts,Joseph G. Gleeson,Wendy K. Chung,Fowzan Sami Alkuraya,Bita Shalbafan,Hugh S. Markus,Henry Houlden,Reza Maroofian

EBioMedicine（2024）

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Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review

Akram Takaleh, Nasser Abunamous,Aisha AlShamsi, Noura Alhassani,Raya Almazrouei

JCEM case reportsno. 3 (2024): luae028-luae028

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Severe CNS Involvement in a Subset of Long-Term Treated Children with Infantile-Onset Pompe Disease

Daniel Kenney-Jung,Aditi Korlimarla,Gail A. Spiridigliozzi,Walter Wiggins,Michael Malinzak,Gretchen Nichting,Seung-Hye Jung,Angela Sun,Raymond Y. Wang,Aisha Al Shamsi,Chanika Phornphutkul,James Owens,James M. Provenzale,Priya S. Kishnani

Molecular Genetics and Metabolismno. 2 (2023): 108119-108119

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Rare Coexistence of Acute Intermittent Porphyria with Systemic Lupus Erythematous: Case Report and Literature Review

Asmaa Yusuf,Omar Alhaj,Afra Aldaheri,Aisha AlShamsi,Mozah AlMarshoodi,Fatima AlKindi, Farooqi Mohammed,Raya Almazrouei

Journal of Investigative Medicine High Impact Case Reports（2023）

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A Novel Frameshift Homozygous Mutation in FAT1 Gene Causes Ptosis, Nephropathy and Syndactyly in Emirati Family: Case Report and Literature Review

Abdulla Alblooshi,Aisha Al-Shamsi

PEDIATRIC NEPHROLOGYno. 7 (2023): 2284-2285

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Papers共 63 篇Author StatisticsCo-AuthorSimilar Experts