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Search Results - Abu-Libdeh, Bassam Y.
Search Results - Abu-Libdeh, Bassam Y.
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Propionic acidemia mimicking diabetic ketoacidosis
by
Dweikat, Imad M
,
Naser, Enas N
,
Abu Libdeh, Abdulsalam I
,
Naser, Osama J
,
Abu Gharbieh, Najwan N
,
Maraqa, Nizar F
,
Abu Libdeh, Bassam Y
Published in
Brain & development (Tokyo. 1979)
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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
by
Nizon, Mathilde
,
Huber, Céline
,
De Leonardis, Fabio
,
Merrina, Rodolphe
,
Forlino, Antonella
,
Fradin, Mélanie
,
Tuysuz, Beyhan
,
Abu-Libdeh, Bassam Y.
,
Alanay, Yasemin
,
Albrecht, Beate
,
Al-Gazali, Lihadh
,
Basaran, Sarenur Yilmaz
,
Clayton-Smith, Jill
,
Désir, Julie
,
Gill, Harinder
,
Greally, Marie T.
,
Koparir, Erkan
,
van Maarle, Merel C
,
MacKay, Sara
,
Mortier, Geert
,
Morton, Jenny
,
Sillence, David
,
Vilain, Catheline
,
Young, Ian
,
Zerres, Klaus
,
Le Merrer, Martine
,
Munnich, Arnold
,
Le Goff, Carine
,
Rossi, Antonio
,
Cormier-Daire, Valérie
Published in
Human mutation
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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
by
Melchionda, Laura
,
Damseh, Nadirah S
,
Abu Libdeh, Bassam Y
,
Nasca, Alessia
,
Elpeleg, Orly
,
Zanolini, Alice
,
Ghezzi, Daniele
Published in
Frontiers in genetics
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Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis
by
Sultan, Mutaz
,
Rao, Anuradha
,
Elpeleg, Orly
,
Vaz, Frédéric M.
,
Abu‐Libdeh, Bassam
,
Karpen, Saul J.
,
Dawson, Paul A.
Published in
Hepatology (Baltimore, Md.)
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
by
Santiago-Sim, Teresa
,
Burrage, Lindsay C.
,
Ebstein, Frédéric
,
Tokita, Mari J.
,
Miller, Marcus
,
Bi, Weimin
,
Braxton, Alicia A.
,
Rosenfeld, Jill A.
,
Shahrour, Maher
,
Lehmann, Andrea
,
Cogné, Benjamin
,
Küry, Sébastien
,
Besnard, Thomas
,
Isidor, Bertrand
,
Bézieau, Stéphane
,
Hazart, Isabelle
,
Nagakura, Honey
,
Immken, LaDonna L.
,
Littlejohn, Rebecca O.
,
Roeder, Elizabeth
,
Afawi, Zaid
,
Balling, Rudi
,
Barisic, Nina
,
Baulac, Stéphanie
,
Craiu, Dana
,
De Jonghe, Peter
,
Guerrero-Lopez, Rosa
,
Guerrini, Renzo
,
Helbig, Ingo
,
Hjalgrim, Helle
,
Jähn, Johanna
,
Klein, Karl Martin
,
Leguern, Eric
,
Lerche, Holger
,
Marini, Carla
,
Muhle, Hiltrud
,
Rosenow, Felix
,
Serratosa, José
,
Sterbová, Katalin
,
Suls, Arvid
,
Moller, Rikke S.
,
Striano, Pasquale
,
Weber, Yvonne
,
Zara, Federico
,
Kara, Bulent
,
Hardies, Katia
,
Weckhuysen, Sarah
,
May, Patrick
,
Lemke, Johannes R.
,
Elpeleg, Orly
,
Abu-Libdeh, Bassam
,
James, Kiely N.
,
Silhavy, Jennifer L.
,
Issa, Mahmoud Y.
,
Zaki, Maha S.
,
Gleeson, Joseph G.
,
Seavitt, John R.
,
Dickinson, Mary E.
,
Ljungberg, M. Cecilia
,
Wells, Sara
,
Johnson, Sara J.
,
Teboul, Lydia
,
Eng, Christine M.
,
Yang, Yaping
,
Kloetzel, Peter-Michael
,
Heaney, Jason D.
,
Walkiewicz, Magdalena A.
Published in
American journal of human genetics
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