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Search Results - Alfaiz, Ali Abdullah
Search Results - Alfaiz, Ali Abdullah
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De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
by
Terrone, Gaetano
,
Voisin, Norine
,
Abdullah Alfaiz, Ali
,
Cappuccio, Gerarda
,
Vitiello, Giuseppina
,
Guex, Nicolas
,
D'Amico, Alessandra
,
James Barkovich, A
,
Brunetti-Pierri, Nicola
,
Del Giudice, Ennio
,
Reymond, Alexandre
Published in
European journal of human genetics : EJHG
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TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease
by
Alfaiz, Ali Abdullah
,
Micale, Lucia
,
Mandriani, Barbara
,
Augello, Bartolomeo
,
Pellico, Maria Teresa
,
Chrast, Jacqueline
,
Xenarios, Ioannis
,
Zelante, Leopoldo
,
Merla, Giuseppe
,
Reymond, Alexandre
Published in
Human mutation
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
by
Migliavacca, Eugenia
,
Golzio, Christelle
,
Männik, Katrin
,
Blumenthal, Ian
,
Oh, Edwin C
,
Harewood, Louise
,
Kosmicki, Jack A
,
Loviglio, Maria Nicla
,
Giannuzzi, Giuliana
,
Hippolyte, Loyse
,
Maillard, Anne M
,
Alfaiz, Ali Abdullah
,
van Haelst, Mieke M
,
Andrieux, Joris
,
Gusella, James F
,
Daly, Mark J
,
Beckmann, Jacques S
,
Jacquemont, Sébastien
,
Talkowski, Michael E
,
Katsanis, Nicholas
,
Reymond, Alexandre
Published in
American journal of human genetics
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West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
by
Alfaiz, Ali Abdullah
,
Müller, Verena
,
Boutry-Kryza, Nadia
,
Ville, Dorothée
,
Guex, Nicolas
,
de Bellescize, Julitta
,
Rivier, Clotilde
,
Labalme, Audrey
,
des Portes, Vincent
,
Edery, Patrick
,
Till, Marianne
,
Xenarios, Ioannis
,
Sanlaville, Damien
,
Herrmann, Johannes M
,
Lesca, Gaétan
,
Reymond, Alexandre
Published in
European journal of human genetics : EJHG
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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
by
Fusco, Carmela
,
Nittis, Pasquelena De
,
Alfaiz, Ali Abdullah
,
Pellico, Maria Teresa
,
Augello, Bartolomeo
,
Malerba, Natascia
,
Zelante, Leopoldo
,
Reymond, Alexandre
,
Merla, Giuseppe
Published in
Journal of pediatric genetics (Birmingham, Ala.)
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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
by
Fusco, Carmela
,
Nittis, Pasquelena De
,
Alfaiz, Ali Abdullah
,
Pellico, Maria Teresa
,
Augello, Bartolomeo
,
Malerba, Natascia
,
Zelante, Leopoldo
,
Reymond, Alexandre
,
Merla, Giuseppe
Published in
Journal of pediatric genetics
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Gut Hormones in Health and Obesity: The Upcoming Role of Short Chain Fatty Acids
by
Alhabeeb, Habeeb
,
AlFaiz, Ali
,
Kutbi, Emad
,
AlShahrani, Dayel
,
Alsuhail, Abdullah
,
AlRajhi, Saleh
,
Alotaibi, Nemer
,
Alotaibi, Khalid
,
AlAmri, Saad
,
Alghamdi, Saleh
,
AlJohani, Naji
Published in
Nutrients
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