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Search Results - AlHashim, Aqeela
Search Results - AlHashim, Aqeela
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
by
Almannai, Mohammed
,
Marafi, Dana
,
Abdel‐Salam, Ghada M. H.
,
Zaki, Maha S.
,
Duan, Ruizhi
,
Calame, Daniel
,
Herman, Isabella
,
Levesque, Felix
,
Elbendary, Hasnaa M.
,
Hegazy, Ibrahim
,
Chung, Wendy K.
,
Kavus, Haluk
,
Saeidi, Kolsoum
,
Maroofian, Reza
,
AlHashim, Aqeela
,
Al‐Otaibi, Ali
,
Al Madhi, Asma
,
Abou Al‐Seood, Hager M.
,
Alasmari, Ali
,
Houlden, Henry
,
Gleeson, Joseph G.
,
Hunter, Jill V.
,
Posey, Jennifer E.
,
Lupski, James R.
,
El‐Hattab, Ayman W.
Published in
Clinical genetics
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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital
by
Alhasan, Khalid A
,
Alshuaibi, Walaa
,
Hamad, Muddathir H
,
Salim, Suha
,
Jamjoom, Dima Z
,
Alhashim, Aqeela H
,
AlGhamdi, Malak Ali
,
Kentab, Amal Y
,
Bashiri, Fahad A
Published in
Children (Basel)
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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study
by
AlBanji, Mohammed H.
,
AlSaad, Abdulaziz N.
,
AlAnazi, Riyam F.
,
Aleisa, Zahra A.
,
Alam, Dalya S.
,
Alhashim, Aqeela H.
Published in
Molecular genetics and metabolism reports
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A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes
by
Fisher, Nicole M
,
AlHashim, Aqeela
,
Buch, Aditi B
,
Badivuku, Hana
,
Samman, Manar M
,
Weiss, Kelly M
,
Cestero, Gabriela I
,
Does, Mark D
,
Rook, Jerri M
,
Lindsley, Craig W
,
Conn, P Jeffrey
,
Gogliotti, Rocco G
,
Niswender, Colleen M
Published in
JCI insight
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Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
by
Peer-Zada, Abdul
,
Obaid, Osama
,
Samman, Manar
,
AlHashim, Aqeela
,
AlAsmari, Hajar
,
AlAsmari, Ali
Published in
Journal of Biochemical and Clinical Genetics
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Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI)
by
Alamri, Abdullah
,
Aljadhai, Yaser I.
,
Alrashed, Abdullah
,
Alfheed, Bandar
,
Abdelmoaty, Roba
,
Alenazi, Shoaa
,
Alhashim, Aqeela
,
Benini, Ruba
Published in
Journal of child neurology
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Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
by
Saleh, Mohammed M.
,
Hamhom, Abdulrahim M.
,
Al-Otaibi, Ali
,
AlGhamdi, Malak
,
Housawi, Yousef
,
Aljadhai, Yaser I.
,
Alameer, Seham
,
Almannai, Mohammed
,
Jad, Lamyaa A.
,
Alwadei, Ali H.
,
Tabassum, Sadia
,
Alsaman, Abdulaziz
,
AlAsmari, Ali
,
Al Mutairi, Fuad
,
Althiyab, Hamad
,
Bashiri, Fahad A.
,
AlHumaidi, Suzan
,
Alfadhel, Majid
,
Mink, Jonathan W.
,
AlHashim, Aqeela
,
Faqeih, Eissa A.
,
Kentab, Amal
,
Muddathir, H.H.
,
Salih, M.A.
,
Mushiba, Aziza M.
,
Zada, A.P.
,
Bamajboor, Mohammed S.
,
Zameer, Sadique
,
AlBassam, Fahad
,
Mahmoud, Adel
,
Alnawfal, A.A.
,
AlAmr, Mushari
,
Bawazir, Maryam
,
Al Rumayyan, Ahmed
,
Al-Twaijri, Waleed
,
Alrifai, Muhammed Talal
,
Al Hajjaj, Sumayah
Published in
Pediatric neurology
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