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Wyszukujesz frazę ""Al-Mutairi, Fuad"" wg kryterium: Autor


Wyświetlanie 1-53 z 53
Tytuł:
A founder DBR1 variant causes a lethal form of congenital ichthyosis
Autorzy:
Shamseldin, Hanan E.
Sadagopan, Mukunth
Martini, Javier
Al-Ali, Ruslan
Radefeldt, Mandy
Ataei, Mojgan
Lemke, Sabrina
Rahbeeni, Zuhair
Al Mutairi, FuadAff4, Aff5
Ababneh, FarougAff4, Aff5
AlRukban, Hadeel A.
Abdulwahab, Firdous
Alhajj, Saleh Mohammed
Bauer, PeterAff2, Aff7
Bertoli-Avella, Aida
Alkuraya, Fowzan S.Aff1, Aff8, IDs00439023025973_cor16
Pokaż więcej
Źródło:
Human Genetics. 142(10):1491-1498
Czasopismo naukowe
Tytuł:
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Autorzy:
Hannah, Michael G.
Bugiardini, Enrico
Bertini, Enrico
Kriouile, Yamna
El-Khorassani, Mohamed
Aguennouz, Mhammed
Groppa, Stanislav
Karashova, Blagovesta M.
Goraya, Jatinder S.
Sultan, Tipu
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Veggiotti, Pierangelo
Verrotti, Alberto
Lanari, Marcello
Savasta, Salvatore
Macaya, Alfons
Garavaglia, Barbara
Borgione, Eugenia
Papacostas, Savvas
Vikelis, Michail
Chelban, Viorica
Kaiyrzhanov, Rauan
Cortese, Andrea
Sullivan, Roisin
Papanicolaou, Eleni Z.
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat N.
Atawneh, Osama
Lim, Shen-Yang
Zuccotti, Gian V.
Marseglia, Gian L.
Esposito, Susanna
Shaikh, Farooq
Cogo, Paola
Corsello, Giovanni
Mangano, Salvatore
Nardello, Rosaria
Mangano, Donato
Scardamaglia, Annarita
Koutsis, George
Scuderi, Carmela
Ferrara, Pietro
Morello, Giovanna
Zollo, Massimo
Berni-Canani, Roberto
Terracciano, Luigi M.
Sisto, Antonio
Di Fabio, Sandra
Strano, Federica
Scorrano, Giovanna
Di Bella, Saverio
Di Francesco, Ludovica
Manizha, Ganieva
Isrofilov, Maksud
Guliyeva, Ulviyya
Salayev, Kamran
Khachatryan, Samson
Xiromerisiou, Georgia
Spanaki, Cleanthe
Fiorillo, Chiara
Iacomino, Michele
Gaudio, Eugenio
Munell, Francina
Gagliano, Antonella
Jan, Farida
Chimenz, Roberto
Gitto, Eloisa
Iughetti, Lorenzo
Di Rosa, Gabriella
Maghnie, Mohamad
Pettoello-Mantovani, Massimo
Gupta, Neerja
Kabra, Madhulika
Benrhouma, Hanene
Tazir, Meriem
Bottone, Gabriella
Farello, Giovanni
Delvecchio, Maurizio
Di-Donato, Giulio
Obeid, Makram
Bakhtadze, Sophia
Saadi, Nebal W.
Miraglia-Del-Giudice, Michele
Maccarone, Rita
Zaki, Maha S.
Triki, Chahnez C.
Kara, Majdi
Karimiani, Ehsan G.
Salih, Ahmed M.
Ramenghi, Luca A.
Seri, Marco
Di-Falco, Giovanna
Mandarà, Luana
Barrano, Giuseppe
Elisa, Maurizio
Cherubini, Enrico
Operto, Francesca F.
Valenzise, Mariella
Cattaneo, Antonino
Zazzeroni, Francesca
Alesse, Edoardo
Matricardi, Sara
Zafar, Faisal
Ullah, Ehsan
Afzal, Erum
Rahman, Fatima
Ahmed, Muhammad M.
Parisi, Pasquale
Spalice, Alberto
De Filippo, Maria
Licari, Amelia
Trebbi, Edoardo
Romano, Ferdinando
Heimer, Gali
Al-Khawaja, Issam
Al-Mutairi, Fuad
Alkuraya, Fowzan S.
Rizig, Mie
Shashkin, Chingiz
Zharkynbekova, Nazira
Koneyev, Kairgali
Salpietro, Vincenzo
Maroofian, Reza
Wangen, Jamie
Ciolfi, Andrea
Barresi, Sabina
Efthymiou, Stephanie
Lamaze, Angelique
Aughey, Gabriel N.
Al Mutairi, Fuad
Rad, Aboulfazl
Rocca, Clarissa
Calì, Elisa
Accogli, Andrea
Zara, Federico
Striano, Pasquale
Mojarrad, Majid
Tariq, Huma
Giacopuzzi, Edoardo
Taylor, Jenny C.
Oprea, Gabriela
Skrahina, Volha
Rehman, Khalil Ur
Abd Elmaksoud, Marwa
Bassiony, Mahmoud
El Said, Huda G.
Abdel-Hamid, Mohamed S.
Al Shalan, Maha
Seo, Gohun
Kim, Sohyun
Lee, Hane
Khang, Rin
Issa, Mahmoud Y.
Elbendary, Hasnaa M.
Rafat, Karima
Marinakis, Nikolaos M.
Traeger-Synodinos, Joanne
Ververi, Athina
Sourmpi, Mara
Eslahi, Atieh
Khadivi Zand, Farhad
Beiraghi Toosi, Mehran
Babaei, Meisam
Jackson, Adam
Bertoli-Avella, Aida
Pagnamenta, Alistair T.
Niceta, Marcello
Battini, Roberta
Corsello, Antonio
Leoni, Chiara
Chiarelli, Francesco
Dallapiccola, Bruno
Faqeih, Eissa Ali
Tallur, Krishnaraya K.
Alfadhel, Majid
Alobeid, Eman
Maddirevula, Sateesh
Mankad, Kshitij
Banka, Siddharth
Ghayoor-Karimiani, Ehsan
Tartaglia, Marco
Chung, Wendy K.
Green, Rachel
Jepson, James E.C.
Houlden, Henry
Pokaż więcej
Źródło:
In The American Journal of Human Genetics 4 January 2024 111(1):200-210
Czasopismo naukowe
Tytuł:
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
Autorzy:
Alfadhel, Majid
Nashabat, Marwan
Saleh, Mohammed
Elamin, Mohammed
Alfares, Ahmed
Al Othaim, Ali
Umair, Muhammad
Ahmed, Hind
Ababneh, Faroug
Al Mutairi, Fuad
Eyaid, Wafaa
Alswaid, Abdulrahman
Alohali, Lina
Faqeih, Eissa
Almannai, Mohammed
Aljeraisy, Majed
Albdah, Bayan
Hussein, Mohamed A.
Rahbeeni, Zuhair
Alasmari, Ali
Pokaż więcej
Źródło:
Orphanet Journal of Rare Diseases. 16(1)
Czasopismo naukowe
Książka elektroniczna
Tytuł:
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
Autorzy:
Nashabat, Marwan
Obaid, Abdulrahman
Al Mutairi, Fuad
Saleh, Mohammed
Elamin, Mohammed
Ahmed, Hind
Ababneh, Faroug
Eyaid, Wafaa
Alswaid, Abdulrahman
Alohali, Lina
Faqeih, Eissa
Aljeraisy, Majed
Hussein, Mohamed A.
Alasmari, Ali
Alfadhel, Majid
Pokaż więcej
Źródło:
BMC Pediatrics. 19(1)
Czasopismo naukowe
Tytuł:
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Autorzy:
Monies, Dorota
Abouelhoda, Mohamed
AlSayed, Moeenaldeen
Alhassnan, Zuhair
Alotaibi, Maha
Kayyali, Husam
Al-Owain, Mohammed
Shah, Ayaz
Rahbeeni, Zuhair
Al-Muhaizea, Mohammad A.
Alzaidan, Hamad I.
Cupler, Edward
Bohlega, Saeed
Faqeih, Eissa
Faden, Maha
Alyounes, Banan
Jaroudi, Dyala
Goljan, Ewa
Elbardisy, Hadeel
Akilan, Asma
Albar, Renad
Aldhalaan, Hesham
Gulab, Shamshad
Chedrawi, Aziza
Al Saud, Bandar K
Kurdi, Wesam
Makhseed, Nawal
Alqasim, Tahani
El Khashab, Heba Y.
Al-Mousa, Hamoud
Alhashem, Amal
Kanaan, Imaduddin
Algoufi, Talal
Alsaleem, Khalid
Basha, Talal A.
Al-Murshedi, Fathiya
Khan, Sameena
Al-Kindy, Adila
Alnemer, Maha
Al-Hajjar, Sami
Alyamani, Suad
Aldhekri, Hasan
Al-Mehaidib, Ali
Arnaout, Rand
Dabbagh, Omar
Shagrani, Mohammad
Broering, Dieter
Tulbah, Maha
Alqassmi, Amal
Almugbel, Maisoon
AlQuaiz, Mohammed
Alsaman, Abdulaziz
Al-Thihli, Khalid
Sulaiman, Raashda A.
Al-Dekhail, Wajeeh
Alsaegh, Abeer
Bashiri, Fahad A.
Qari, Alya
Alhomadi, Suzan
Alkuraya, Hisham
Alsebayel, Mohammed
Hamad, Muddathir H
Szonyi, Laszlo
Abaalkhail, Faisal
Al-Mayouf, Sulaiman M.
Almojalli, Hamad
Alqadi, Khalid S.
Elsiesy, Hussien
Shuaib, Taghreed M.
Seidahmed, Mohammed Zain
Abosoudah, Ibraheem
Akleh, Hana
AlGhonaium, Abdulaziz
Alkharfy, Turki M.
Al Mutairi, Fuad
Eyaid, Wafa
Alshanbary, Abdullah
Sheikh, Farrukh R.
Alsohaibani, Fahad I.
Alsonbul, Abdullah
Al Tala, Saeed
Balkhy, Soher
Bassiouni, Randa
Alenizi, Ahmed S.
Hussein, Maged H.
Hassan, Saeed
Khalil, Mohamed
Tabarki, Brahim
Alshahwan, Saad
Oshi, Amira
Sabr, Yasser
Alsaadoun, Saad
Salih, Mustafa A.
Mohamed, Sarar
Sultana, Habiba
Tamim, Abdullah
El-Haj, Moayad
Alshahrani, Saif
Bubshait, Dalal K.
Alfadhel, Majid
Faquih, Tariq
El-Kalioby, Mohamed
Subhani, Shazia
Shah, Zeeshan
Moghrabi, Nabil
Meyer, Brian F.
Alkuraya, Fowzan S.
Pokaż więcej
Źródło:
Human Genetics. August 2017 136(8):921-939
Czasopismo naukowe
Tytuł:
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Autorzy:
Alsubaie, Lamia
Alkhalaf, Randa
Aloraini, Taghrid
Amoudi, Manal
Swaid, Abdulrahman
Al Mutairi, Fuad
Alfadhel, Majid
Eyaid1, Wafaa
Sewairi, Wafaa
Alfares, Ahmed
Pokaż więcej
Temat:
FAMILIAL Mediterranean fever
MEDICAL genetics
GENE frequency
DATABASES
MEDICAL genomics
MEDICAL databases
Źródło:
Annals of Human Genetics; Sep2020, Vol. 84 Issue 5, p370-379, 10p
Czasopismo naukowe
Tytuł:
Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.
Autorzy:
Almannai, Mohammed (AUTHOR)
Marafi, Dana (AUTHOR)
Zaki, Maha S. (AUTHOR)
Maroofian, Reza (AUTHOR)
Efthymiou, Stephanie (AUTHOR)
Saadi, Nebal Waill (AUTHOR)
Filimban, Bilal (AUTHOR)
Dafsari, Hormos Salimi (AUTHOR)
Rahman, Fatima (AUTHOR)
Maqbool, Shazia (AUTHOR)
Faqeih, Eissa (AUTHOR)
Al Mutairi, Fuad (AUTHOR)
Alsharhan, Hind (AUTHOR)
Abdelaty, Omar (AUTHOR)
Bin‐Hasan, Saadoun (AUTHOR)
Duan, Ruizhi (AUTHOR)
Noureldeen, Mahmoud M. (AUTHOR)
Alqattan, Alaa (AUTHOR)
Houlden, Henry (AUTHOR)
Hunter, Jill V. (AUTHOR)
Pokaż więcej
Źródło:
Clinical Genetics. Feb2024, p1. 10p. 4 Illustrations, 1 Chart.
Czasopismo naukowe
    Wyświetlanie 1-53 z 53

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