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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
by
Meng, Linyan
,
Isohanni, Pirjo
,
Shao, Yunru
,
Graham, Brett H.
,
Hickey, Scott E.
,
Brooks, Stephanie
,
Suomalainen, Anu
,
Joset, Pascal
,
Steindl, Katharina
,
Rauch, Anita
,
Hackenberg, Annette
,
High, Frances A.
,
Armstrong‐Javors, Amy
,
Mencacci, Niccolò E.
,
Gonzàlez‐Latapi, Paulina
,
Kamel, Walaa A.
,
Al‐Hashel, Jasem Y.
,
Bustos, Bernabé I.
,
Hernandez, Alejandro V.
,
Krainc, Dimitri
,
Lubbe, Steven J.
,
Van Esch, Hilde
,
De Luca, Chiara
,
Ballon, Katleen
,
Ravelli, Claudia
,
Burglen, Lydie
,
Qebibo, Leila
,
Calame, Daniel G.
,
Mitani, Tadahiro
,
Marafi, Dana
,
Pehlivan, Davut
,
Saadi, Nebal W.
,
Sahin, Yavuz
,
Maroofian, Reza
,
Efthymiou, Stephanie
,
Houlden, Henry
,
Maqbool, Shazia
,
Rahman, Fatima
,
Gu, Shen
,
Posey, Jennifer E.
,
Lupski, James R.
,
Hunter, Jill V.
,
Wangler, Michael F.
,
Carroll, Christopher J.
,
Yang, Yaping
Published in
Annals of neurology
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraple...
by
Calame, Daniel G.
,
Herman, Isabella
,
Maroofian, Reza
,
Marshall, Aren E.
,
Donis, Karina Carvalho
,
Fatih, Jawid M.
,
Mitani, Tadahiro
,
Du, Haowei
,
Grochowski, Christopher M.
,
Sousa, Sergio B.
,
Gijavanekar, Charul
,
Bakhtiari, Somayeh
,
Ito, Yoko A.
,
Rocca, Clarissa
,
Hunter, Jill V.
,
Sutton, V. Reid
,
Emrick, Lisa T.
,
Boycott, Kym M.
,
Lossos, Alexander
,
Fellig, Yakov
,
Prus, Eugenia
,
Kalish, Yosef
,
Meiner, Vardiella
,
Suerink, Manon
,
Ruivenkamp, Claudia
,
Muirhead, Kayla
,
Saadi, Nebal W.
,
Zaki, Maha S.
,
Bouman, Arjan
,
Barakat, Tahsin Stefan
,
Skidmore, David L.
,
Osmond, Matthew
,
Silva, Thiago Oliveira
,
Murphy, David
,
Karimiani, Ehsan Ghayoor
,
Jamshidi, Yalda
,
Jaddoa, Asaad Ghanim
,
Tajsharghi, Homa
,
Jin, Sheng Chih
,
Abbaszadegan, Mohammad Reza
,
Ebrahimzadeh‐Vesal, Reza
,
Hosseini, Susan
,
Alavi, Shahryar
,
Bahreini, Amir
,
Zarean, Elahe
,
Salehi, Mohammad Mehdi
,
Al‐Sannaa, Nouriya Abbas
,
Zifarelli, Giovanni
,
Bauer, Peter
,
Robson, Simon C.
,
Coban‐Akdemir, Zeynep
,
Travaglini, Lorena
,
Nicita, Francesco
,
Jhangiani, Shalini N.
,
Gibbs, Richard A.
,
Posey, Jennifer E.
,
Kruer, Michael C.
,
Kernohan, Kristin D.
,
Morales Saute, Jonas A.
,
Houlden, Henry
,
Vanderver, Adeline
,
Elsea, Sarah H.
,
Pehlivan, Davut
,
Marafi, Dana
,
Lupski, James R.
Published in
Annals of neurology
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
by
Salpietro, Vincenzo
,
Dixon, Christine L
,
Guo, Hui
,
Bello, Oscar D
,
Vandrovcova, Jana
,
Efthymiou, Stephanie
,
Maroofian, Reza
,
Heimer, Gali
,
Burglen, Lydie
,
Valence, Stephanie
,
Torti, Erin
,
Hacke, Moritz
,
Rankin, Julia
,
Tariq, Huma
,
Colin, Estelle
,
Procaccio, Vincent
,
Striano, Pasquale
,
Mankad, Kshitij
,
Lieb, Andreas
,
Chen, Sharon
,
Pisani, Laura
,
Bettencourt, Conceicao
,
Männikkö, Roope
,
Manole, Andreea
,
Brusco, Alfredo
,
Grosso, Enrico
,
Ferrero, Giovanni Battista
,
Armstrong-Moron, Judith
,
Gueden, Sophie
,
Bar-Yosef, Omer
,
Tzadok, Michal
,
Monaghan, Kristin G
,
Santiago-Sim, Teresa
,
Person, Richard E
,
Cho, Megan T
,
Willaert, Rebecca
,
Yoo, Yongjin
,
Chae, Jong-Hee
,
Quan, Yingting
,
Wu, Huidan
,
Wang, Tianyun
,
Bernier, Raphael A
,
Xia, Kun
,
Blesson, Alyssa
,
Jain, Mahim
,
Motazacker, Mohammad M
,
Jaeger, Bregje
,
Schneider, Amy L
,
Boysen, Katja
,
Muir, Alison M
,
Myers, Candace T
,
Gavrilova, Ralitza H
,
Gunderson, Lauren
,
Schultz-Rogers, Laura
,
Klee, Eric W
,
Dyment, David
,
Osmond, Matthew
,
Parellada, Mara
,
Llorente, Cloe
,
Gonzalez-Peñas, Javier
,
Carracedo, Angel
,
Van Haeringen, Arie
,
Ruivenkamp, Claudia
,
Nava, Caroline
,
Heron, Delphine
,
Nardello, Rosaria
,
Iacomino, Michele
,
Minetti, Carlo
,
Skabar, Aldo
,
Fabretto, Antonella
,
Raspall-Chaure, Miquel
,
Chez, Michael
,
Tsai, Anne
,
Fassi, Emily
,
Shinawi, Marwan
,
Constantino, John N
,
De Zorzi, Rita
,
Fortuna, Sara
,
Kok, Fernando
,
Keren, Boris
,
Bonneau, Dominique
,
Choi, Murim
,
Benzeev, Bruria
,
Zara, Federico
,
Mefford, Heather C
,
Scheffer, Ingrid E
,
Clayton-Smith, Jill
,
Macaya, Alfons
,
Rothman, James E
,
Eichler, Evan E
,
Kullmann, Dimitri M
,
Houlden, Henry
Published in
Nature communications
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Clinical and molecular characterization of patients with YWHAG‐related epilepsy
by
Cetica, Valentina
,
Pisano, Tiziana
,
Lesca, Gaetan
,
Marafi, Dana
,
Licchetta, Laura
,
Riccardi, Florence
,
Mei, Davide
,
Chung, Hon‐yin B.
,
Bayat, Allan
,
Balasubramanian, Meena
,
Lowenstein, Daniel H.
,
Endzinienė, Milda
,
Alotaibi, Maha
,
Villeneuve, Nathalie
,
Jacobs, Julia
,
Isidor, Bertrand
,
Solazzi, Roberta
,
Hollander, Nicolette S.
,
Marjanovic, Dragan
,
Rougeot‐Jung, Christelle
,
Jung, Julien
,
Lesieur‐Sebellin, Marion
,
Accogli, Andrea
,
Salpietro, Vincenzo
,
Saadi, Nebal W.
,
Panagiotakaki, Eleni
,
Foiadelli, Thomas
,
Redon, Sylvia
,
Tsai, Meng‐Han
,
Bisulli, Francesca
,
Hammer, Trine B.
,
Lupski, James R.
,
Parrini, Elena
,
Guerrini, Renzo
,
Alotaibi, Lena
,
Ambrosetti, Irene
,
Bellanger, Séverine A.
,
Castellotti, Barbara
,
Cavallin, Mara
,
Chan, Joshua C. K.
,
Chatron, Nicolas
,
Chavany, Julie
,
Cogne, Benjamin
,
Fung, Jasmine L. F.
,
Gjerulfsen, Cathrine E.
,
Granata, Tiziana
,
Guimier, Anne
,
Herman, Isabella
,
Ho, Chen‐Jui
,
Mandorlini, Claudia
,
Milh, Mathieu
,
Minardi, Raffaella
,
Montanari, Francesca
,
Rosenfeld, Jill A.
,
Moller, Rikke S.
,
Operto, Francesca F.
,
Posey, Jennifer E.
,
Ruivenkamp, Claudia A. L.
,
Sacaze, Elise
,
Santi, Viola
,
Savasta, Salvatore
,
Touraine, Renaud
,
Tumiene, Birute
,
Uguen, Kevin
,
Villard, Laurent
Published in
Epilepsia (Copenhagen)
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
by
Salpietro, Vincenzo
,
Maroofian, Reza
,
Wangen, Jamie
,
Ciolfi, Andrea
,
Barresi, Sabina
,
Efthymiou, Stephanie
,
Aughey, Gabriel N.
,
Al Mutairi, Fuad
,
Accogli, Andrea
,
Zara, Federico
,
Tariq, Huma
,
Rehman, Khalil Ur
,
Abd Elmaksoud, Marwa
,
El Said, Huda G.
,
Al Shalan, Maha
,
Khang, Rin
,
Elbendary, Hasnaa M.
,
Marinakis, Nikolaos M.
,
Traeger-Synodinos, Joanne
,
Ververi, Athina
,
Sourmpi, Mara
,
Khadivi Zand, Farhad
,
Beiraghi Toosi, Mehran
,
Hannah, Michael G.
,
Bertini, Enrico
,
Aguennouz, Mhammed
,
Groppa, Stanislav
,
Kathom, Hadil
,
Tincheva, Radka
,
Verrotti, Alberto
,
Macaya, Alfons
,
Garavaglia, Barbara
,
Cortese, Andrea
,
Sullivan, Roisin
,
Papanicolaou, Eleni Z.
,
Dardiotis, Efthymios
,
Maqbool, Shazia
,
Ibrahim, Shahnaz
,
Rana, Nuzhat N.
,
Atawneh, Osama
,
Zuccotti, Gian V.
,
Marseglia, Gian L.
,
Shaikh, Farooq
,
Corsello, Giovanni
,
Mangano, Salvatore
,
Koutsis, George
,
Scuderi, Carmela
,
Ferrara, Pietro
,
Zollo, Massimo
,
Berni-Canani, Roberto
,
Sisto, Antonio
,
Strano, Federica
,
Di Francesco, Ludovica
,
Salayev, Kamran
,
Xiromerisiou, Georgia
,
Munell, Francina
,
Gagliano, Antonella
,
Jan, Farida
,
Chimenz, Roberto
,
Di Rosa, Gabriella
,
Pettoello-Mantovani, Massimo
,
Tazir, Meriem
,
Farello, Giovanni
,
Delvecchio, Maurizio
,
Di-Donato, Giulio
,
Obeid, Makram
,
Saadi, Nebal W.
,
Maccarone, Rita
,
Kara, Majdi
,
Karimiani, Ehsan G.
,
Seri, Marco
,
Di-Falco, Giovanna
,
Barrano, Giuseppe
,
Operto, Francesca F.
,
Valenzise, Mariella
,
Matricardi, Sara
,
Zafar, Faisal
,
Ullah, Ehsan
,
Afzal, Erum
,
Rahman, Fatima
,
De Filippo, Maria
,
Licari, Amelia
,
Trebbi, Edoardo
,
Romano, Ferdinando
,
Heimer, Gali
,
Al-Khawaja, Issam
,
Al-Mutairi, Fuad
,
Shashkin, Chingiz
,
Koneyev, Kairgali
,
Pagnamenta, Alistair T.
,
Corsello, Antonio
,
Dallapiccola, Bruno
,
Alobeid, Eman
,
Mankad, Kshitij
,
Ghayoor-Karimiani, Ehsan
,
Chung, Wendy K.
,
Green, Rachel
,
Alkuraya, Fowzan S.
,
Jepson, James E.C.
,
Houlden, Henry
Published in
American journal of human genetics
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Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
by
Calame, Daniel G.
,
Herman, Isabella
,
Marshall, Aren E.
,
Maroofian, Reza
,
Donis, Karina Carvalho
,
Fatih, Jawid M.
,
Mitani, Tadahiro
,
Du, Haowei
,
Grochowski, Christopher M.
,
Sousa, Sergio
,
Bakhtiari, Somayeh
,
Ito, Yoko A.
,
Rocca, Clarissa
,
Hunter, Jill V.
,
Sutton, V. Reid
,
Emrick, Lisa T.
,
Boycott, Kym M.
,
Lossos, Alexander
,
Fellig, Yakov
,
Prus, Eugenia
,
Kalish, Yosef
,
Meiner, Vardiella
,
Suerink, Manon
,
Ruivenkamp, Claudia
,
Muirhead, Kayla
,
Saadi, Nebal W.
,
Zaki, Maha S.
,
Skidmore, David L.
,
Osmond, Matthew
,
Silva, Thiago Oliveira
,
Houlden, Henry
,
Murphy, David
,
Ghayoorarimiani, Ehsan
,
Jamshidi, Yalda
,
Jaddoa, Asaad Ghanim
,
Tajsharghi, Homa
,
Jin, Sheng Chih
,
Coban-Akdemir, Zeynep
,
Travaglini, Lorena
,
Nicita, Francesco
,
Jhangiani, Shalini N.
,
Gibbs, Richard A.
,
Posey, Jennifer E.
,
Kruer, Michael C.
,
Kernohan, Kristin D.
,
Morales Saute, Jonas A.
,
Vanderver, Adeline
,
Pehlivan, Davut
,
Marafi, Dana
,
Lupski, James R.
Published in
Annals of neurology
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
by
Calì, Elisa
,
Lin, Sheng-Jia
,
El Chehadeh, Salima
,
Chaabouni, Myriam
,
Mankad, Kshitij
,
Galanaki, Evangelia
,
Sudhakar, Sniya
,
Athanasiou-Fragkouli, Alkyoni
,
Çelik, Tamer
,
Narlı, Nejat
,
Bianca, Sebastiano
,
El Khorassani, Mohamed
,
Groppa, Stanislav
,
Karashova, Blagovesta Marinova
,
Di Rosa, Gabriella
,
Avdjieva, Daniela
,
Kathom, Hadil
,
Tincheva, Radka
,
Veggiotti, Pierangelo
,
Savasta, Salvatore
,
Ruiz, Alfons Macaya
,
Garavaglia, Barbara
,
Borgione, Eugenia
,
Papacostas, Savvas
,
Compagnoni, Chiara
,
Piccirilli, Alessandra
,
Vikelis, Michail
,
Chelban, Viorica
,
Cortese, Andrea
,
Sullivan, Roisin
,
Papanicolaou, Eleni Zamba
,
Dardiotis, Efthymios
,
Ibrahim, Shahnaz
,
Kirmani, Salman
,
Atawneh, Osama
,
Lim, Shen-Yang
,
Shaikh, Farooq
,
Scardamaglia, Annarita
,
Mangano, Salvatore
,
Scuderi, Carmela
,
Morello, Giovanna
,
Zollo, Massimo
,
Heimer, Gali
,
Alkuraya, Fowzan S.
,
Guliyeva, Ulviyya
,
Salayev, Kamran
,
Fiorillo, Chiara
,
Rissotto, Federico
,
Gagliano, Antonella
,
Chimenz, Roberto
,
Gitto, Eloisa
,
Cuppari, Caterina
,
Magrinelli, Francesca
,
Zagaroli, Luca
,
Caloisi, Claudia
,
Fabiano, Cecilia
,
Bottone, Gabriella
,
Di Fabio, Sandra
,
Obeid, Makram
,
Bakhtadze, Sophia
,
Saadi, Nebal W.
,
Zaki, Maha S.
,
Kara, Majdi
,
Specchio, Nicola
,
Karimiani, Ehsan G.
,
Salih, Ahmed M.
,
David, Emanuele
,
Curró, Riccardo
,
Iezzi, Maria Laura
,
Iapadre, Giulia
,
Brancati, Francesco
,
Di Falco, Giovanna
,
Operto, Francesca F.
,
Valenzise, Mariella
,
Della Rocca, Ylenia
,
Alesse, Edoardo
,
Pironti, Erica
,
Amore, Greta
,
Ceravolo, Giorgia
,
Zafar, Faisal
,
Ullah, Ehsan
,
Afzal, Erum
,
Rahman, Fatima
,
Parisi, Pasquale
,
Genomics, Queen Square
,
Andrea Accogli
,
Petree, Cassidy
,
Huang, Kevin
,
Monastiri, Kamel
,
Nardello, Rosaria
,
Ognibene, Marzia
,
Ruggieri, Martino
,
Zara, Federico
,
Abi Warde, Marie Therese
,
Gerard, Benedicte
,
Beetz, Christian
,
Fortuna, Sara
,
Soler, Miguel
,
Varshney, Gaurav
,
Salpietro, Vincenzo
Published in
Genetics in medicine
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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder
by
Almannai, Mohammed
,
Marafi, Dana
,
Zaki, Maha S.
,
Maroofian, Reza
,
Efthymiou, Stephanie
,
Saadi, Nebal Waill
,
Filimban, Bilal
,
Dafsari, Hormos Salimi
,
Rahman, Fatima
,
Maqbool, Shazia
,
Faqeih, Eissa
,
Al Mutairi, Fuad
,
Alsharhan, Hind
,
Abdelaty, Omar
,
Bin‐Hasan, Saadoun
,
Duan, Ruizhi
,
Noureldeen, Mahmoud M.
,
Alqattan, Alaa
,
Houlden, Henry
,
Hunter, Jill V.
,
Posey, Jennifer E.
,
Lupski, James R.
,
El‐Hattab, Ayman W.
Published in
Clinical genetics
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