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🐜
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
88 auth.
D. Ebrahimi‐Fakhari,
Julian Teinert,
Robert Behne,
Miriam Wimmer,
Angelica D’Amore,
Kathrin Eberhardt,
Barbara Brechmann,
Marvin Ziegler,
Dana M. Jensen,
Premsai Nagabhyrava,
G. Geisel,
Erin Carmody,
Uzma Shamshad,
K. Dies,
Christopher J. Yuskaitis,
...
Catherine L. Salussolia,
D. Ebrahimi-Fakhari,
T. Pearson,
Afshin Saffari,
A. Ziegler,
S. Kölker,
J. Volkmann,
Antje Wiesener,
D. Bearden,
Shenela Lakhani,
D. Segal,
A. Udwadia-Hegde,
A. Martinuzzi,
Jennifer Hirst,
Seth Perlman,
Y. Takiyama,
G. Xiromerisiou,
K. Vill,
W. Walker,
A. Shukla,
Rachana Dubey Gupta,
N. Dahl,
A. Aksoy,
H. Verhelst,
M. Delgado,
Radka Kremlíková Pourová,
A. Sadek,
N. Elkhateeb,
Lubov Blumkin,
A. Brea-Fernández,
David Dacruz-Álvarez,
T. Smol,
J. Ghoumid,
D. Miguel,
Constanze Heine,
J. Schlump,
H. Langen,
J. Baets,
S. Bulk,
H. Darvish,
S. Bakhtiari,
M. Kruer,
E. Lim-Melia,
N. Aydınlı,
Y. Alanay,
O. El-Rashidy,
S. Nampoothiri,
C. Patel,
C. Beetz,
P. Bauer,
G. Yoon,
Mireille Guillot,
Steven P. Miller,
Thomas Bourinaris,
H. Houlden,
L. Robelin,
M. Anheim,
Abdullah AlAmri,
A. Mahmoud,
S. Inaloo,
P. Habibzadeh,
M. Faghihi,
A. Jansen,
Stefanie Brock,
A. Roubertie,
B. Darras,
P. Agrawal,
F. Santorelli,
J. Gleeson,
M. Zaki,
S. Sheikh,
James T. Bennett,
M. Sahin
|
5 |
2020 |
5
🐜
|
|
🐜
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Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature
8 auth.
Marwa M. Nabhan,
N. Elkhateeb,
D. Braun,
S. Eun,
S. Saleem,
Heon YungGee,
...
F. Hildebrandt,
Neveen A. Soliman
|
3 |
2017 |
3
🐜
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|
🐜
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Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations
20 auth.
I. Mahmoud,
M. A. Elmonem,
N. Elkhateeb,
W. ElNaggar,
A. Sobhi,
Marian Y. Girgis,
Mona Kamel,
Yara Shaheen,
M. Samaha,
A. Ramadan,
...
M. Zaki,
Bahaa Elhawary,
Sawsan A. Hassan,
Iman Khalifa,
Fawzya Mossad,
Nihal M Al-Menabawy,
S. Zielke,
J. Gleeson,
A. Rolfs,
L. Selim
|
2 |
2019 |
2
🐜
|
|
🐬
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Initial levetiracetam versus valproate monotherapy in antiseizure medicine (ASM)-naïve pediatric patients with idiopathic generalized epilepsy with tonic-clonic seizures
Sherry Kodsy Abdelmesih,
N. Elkhateeb,
Mostafa Zakaria,
Marian Y. Girgis
|
1 |
2021 |
1
🐬
|
|
🐜
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The expanding clinical and genetic spectrum of DYNC1H1-related disorders
48 auth.
Birk Möller,
L. Becker,
Afshin Saffari,
A. Afenjar,
Emanuele G Coci,
Rachel Williamson,
Catherine Ward-Melver,
Marc Gibaud,
L. Sedláčková,
P. Laššuthová,
Zuzana Libá,
M. Vlčková,
Nancy William,
Eric W. Klee,
Ralitza Gavrilova,
...
Jonathan Lévy,
Y. Capri,
Mena T. Scavina,
R. W. Körner,
Zaheer Valuvullah,
Claudia Weiss,
Greta Marit Möller,
M. Thiel,
M. Sinnema,
E. Kamsteeg,
S. Donkervoort,
Veronique Duboc,
Khaoula Zaafrane-Khachnaoui,
N. Elkhateeb,
Laila Selim,
H. Margot,
Victor Marin,
C. Bénéteau,
B. Isidor,
B. Cogné,
B. Keren,
B. Küsters,
A. Beggs,
C. Genetti,
Joost Nicolai,
J. Dötsch,
A. Koy,
Carsten G Bönnemann,
Maja von der Hagen,
Jürgen-Christoph von Kleist-Retzow,
N. Voermans,
H. Jungbluth,
H. Dafsari
|
1 |
2024 |
1
🐜
|
|
🦁
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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
71 auth.
N. Elkhateeb,
R. Crookes,
Michael Spiller,
Lisa Pavinato,
Flavia Palermo,
Alfredo Brusco,
Michael J. Parker,
Soo-Mi Park,
Ariana Costa Mendes,
Jorge M. Saraiva,
T. Hammer,
Lusine Nazaryan-Petersen,
T. S. Barakat,
Martina Wilke,
E. Bhoj,
...
Rebecca C. Ahrens-Nicklas,
Dong Li,
T. Nomakuchi,
E. Brilstra,
D. Hunt,
Diana Johnson,
Sahar Mansour,
K. Oprych,
S. Mehta,
K. Platzer,
Franziska Schnabel,
Henriette Kiep,
Helene Faust,
Gillian Prinzing,
Kimberly Wiltrout,
Jessica A. Radley,
Alvaro H. Serrano Russi,
Isis Atallah,
Belinda Campos-Xavier,
David J. Amor,
Angela Morgan,
C. Fagerberg,
Ulla A. Andersen,
Charlotte B. Andersen,
E. Bijlsma,
Lynne M Bird,
Sureni V. Mullegama,
Andrew Green,
B. Isidor,
B. Cogné,
Janna Kenny,
S. Lynch,
Shauna Quin,
K. Low,
Theresia Herget,
F. Kortüm,
Rebecca J. Levy,
Jennifer L Morrison,
Patricia G. Wheeler,
Tara Chandra Narumanch,
Kristina Peron,
Nicole Matthews,
Jillian Uhlman,
Lauren Bell,
Lewis Pang,
I. Scurr,
Rebecca S. Belles,
B. Salbert,
G. B. Schaefer,
Sarah Green,
Andrea Ros,
Agustí Rodríguez-Palmero,
Tanja Višnjar,
K. Writzl,
Pradeep Vasudevan,
M. Balasubramanian
|
1 |
2024 |
1
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