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The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection.
L. D. Vries,
H. Gunardi,
P. Barth,
L. Bok,
M. Verboon-Maciolek,
F. Groenendaal
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7 |
2004 |
7 🐬
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
75 auth.
K. Platzer,
Hongjie Yuan,
Hannah Schütz,
Alexander Winschel,
Wenjuan Chen,
Chun Hu,
Hirofumi Kusumoto,
H. Heyne,
K. Helbig,
Sha Tang,
M. Willing,
B. Tinkle,
Darius J. Adams,
C. Depienne,
B. Keren,
...
C. Mignot,
E. Frengen,
P. Strømme,
S. Biskup,
D. Döcker,
T. Strom,
H. Mefford,
Candace T. Myers,
Alison M. Muir,
Amy Lacroix,
L. Sadleir,
I. Scheffer,
E. Brilstra,
M. V. van Haelst,
J. van der Smagt,
L. Bok,
R. Møller,
U. Jensen,
J. Millichap,
A. Berg,
Ethan M. Goldberg,
I. De Bie,
S. Fox,
P. Major,
Julie R. Jones,
E. Zackai,
R. Abou Jamra,
A. Rolfs,
R. Leventer,
J. Lawson,
T. Roscioli,
F. Jansen,
E. Ranza,
C. Korff,
A. Lehesjoki,
C. Courage,
T. Linnankivi,
Douglas R. Smith,
C. Stanley,
M. Mintz,
D. McKnight,
Amy Decker,
W. Tan,
M. Tarnopolsky,
L. Brady,
M. Wolff,
Lutz Dondit,
Helio F. Pedro,
S. Parisotto,
Kelly L Jones,
Anup D. Patel,
D. Franz,
R. Vanzo,
E. Marco,
J. Ranells,
N. Di Donato,
W. Dobyns,
B. Laube,
S. Traynelis,
J. Lemke
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7 |
2017 |
7 🐜
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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
19 auth.
T. Koemans,
T. Kleefstra,
Melissa C Chubak,
Max H Stone,
Margot R. F. Reijnders,
S. D. de Munnik,
M. Willemsen,
Michaela Fenckova,
C. Stumpel,
L. Bok,
...
Margarita Sifuentes Saenz,
K. Byerly,
L. Baughn,
A. Stegmann,
R. Pfundt,
Huiqing Zhou,
H. van Bokhoven,
A. Schenck,
Jamie M. Kramer
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7 |
2017 |
7 🐜
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The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
39 auth.
Michael D. Fountain,
E. Aten,
M. Cho,
J. Juusola,
M. Walkiewicz,
Joseph W. Ray,
F. Xia,
Yaping Yang,
B. Graham,
C. Bacino,
L. Potocki,
A. van Haeringen,
C. Ruivenkamp,
P. Mancias,
H. Northrup,
...
M. Kukolich,
M. Weiss,
C. V. van Ravenswaaij-Arts,
I. B. Mathijssen,
S. Lévesque,
N. Meeks,
J. Rosenfeld,
D. Lemke,
A. Hamosh,
Suzanne K. Lewis,
Simone Race,
Laura L. Stewart,
B. Hay,
Andrea M. Lewis,
Rita Guerreiro,
J. Bras,
Márcia Martins,
G. Derksen‐Lubsen,
E. Peeters,
C. Stumpel,
S. Stegmann,
L. Bok,
G. Santen,
C. Schaaf
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6 |
2016 |
6 🐜
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
105 auth.
P. J. van der Sluijs,
S. Jansen,
S. Vergano,
Miho Adachi-Fukuda,
Y. Alanay,
A. Alkindy,
A. Baban,
A. Bayat,
S. Beck-Wödl,
K. Berry,
E. Bijlsma,
L. Bok,
A. F. Brouwer,
I. van der Burgt,
Philippe M. Campeau,
...
N. Canham,
K. Chrzanowska,
Yoyo W. Y. Chu,
Brain H. Y. Chung,
K. Dahan,
M. de Rademaeker,
A. Destrėe,
T. Dudding-Byth,
Rachel K. Earl,
N. Elcioglu,
E. Elias,
C. Fagerberg,
A. Gardham,
B. Gener,
E. Gerkes,
U. Grasshoff,
A. van Haeringen,
K. R. Heitink,
J. Herkert,
N. D. den Hollander,
D. Horn,
D. Hunt,
S. Kant,
Mitsuhiro Kato,
H. Kayserili,
R. Kersseboom,
E. Kılıç,
M. Krajewska-Walasek,
Kylin Lammers,
L. Laulund,
D. Lederer,
M. Lees,
V. López‐González,
S. Maas,
G. Mancini,
C. Marcelis,
F. Martínez,
I. Maystadt,
Marianne Mcguire,
S. McKee,
S. Mehta,
K. Metcalfe,
J. Milunsky,
S. Mizuno,
J. Moeschler,
C. Netzer,
C. Ockeloen,
B. Oehl‐Jaschkowitz,
N. Okamoto,
Sharon N. M. Olminkhof,
C. Orellana,
L. Pasquier,
C. Pottinger,
V. Riehmer,
S. Robertson,
Maian Roifman,
C. Rooryck,
F. Ropers,
M. Roselló,
C. Ruivenkamp,
M. Sagiroglu,
S. Sallevelt,
A. Sanchis Calvo,
P. Simsek-Kiper,
G. Soares,
Lucia Solaeche,
F. M. Sonmez,
M. Splitt,
D. Steenbeek,
A. Stegmann,
C. Stumpel,
S. Tanabe,
E. Uctepe,
G. Utine,
H. Veenstra-Knol,
S. Venkateswaran,
C. Vilain,
C. Vincent-Delorme,
A. V. Vulto-van Silfhout,
P. Wheeler,
Golder N Wilson,
L. Wilson,
B. Wollnik,
T. Kosho,
D. Wieczorek,
E. Eichler,
R. Pfundt,
B. D. de Vries,
J. Clayton-Smith,
G. Santen
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6 |
2018 |
6 🐜
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🦁
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Long‐term outcome in pyridoxine‐dependent epilepsy
10 auth.
L. Bok,
F. Halbertsma,
S. Houterman,
R. Wevers,
C. Vreeswijk,
C. Jakobs,
...
E. Struys,
J. H. van der Hoeven,
D. Sival,
M. Willemsen
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6 |
2012 |
6 🦁
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Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
19 auth.
C. V. van Karnebeek,
H. Hartmann,
S. Jaggumantri,
L. Bok,
B. Cheng,
M. Connolly,
C. Coughlin,
A. Das,
S. Gospe,
C. Jakobs,
...
J. H. van der Lee,
S. Mercimek-Mahmutoglu,
U. Meyer,
E. Struys,
G. Sinclair,
J. V. Van Hove,
J. Collet,
B. Plecko,
S. Stockler
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6 |
2012 |
6 🐜
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Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
22 auth.
Cemre Celen,
J. Chuang,
Xinyi Luo,
Nadine Nijem,
Angela K. Walker,
Fei Chen,
Shuyuan Zhang,
Andrew S Chung,
Liem H. Nguyen,
I. Nassour,
...
Albert Budhipramono,
Xuxu Sun,
L. Bok,
M. McEntagart,
E. Gevers,
S. Birnbaum,
A. Eisch,
C. Powell,
Woo-ping Ge,
G. Santen,
Maria H. Chahrour,
Hao Zhu
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6 |
2017 |
6 🐜
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
53 auth.
Margot R. F. Reijnders,
R. Janowski,
M. Alvi,
J. Self,
T. van Essen,
M. Vreeburg,
R. Rouhl,
S. Stevens,
A. Stegmann,
J. Schieving,
R. Pfundt,
K. V. van Dijk,
E. Smeets,
C. Stumpel,
L. Bok,
...
J. Cobben,
M. Engelen,
S. Mansour,
M. Whiteford,
K. Chandler,
S. Douzgou,
N. Cooper,
E. Tan,
R. Foo,
A. Lai,
J. Rankin,
A. Green,
T. Lönnqvist,
P. Isohanni,
Shelley Williams,
Ilene S Ruhoy,
Karen S. Carvalho,
J. Dowling,
D. Lev,
K. Štěrbová,
P. Laššuthová,
J. Neupauerová,
J. Waugh,
Sotirios Keros,
J. Clayton-Smith,
S. Smithson,
H. Brunner,
Ceciel van Hoeckel,
Mellissa D. Anderson,
V. Clowes,
V. Siu,
The DDD study,
P. Selber,
R. Leventer,
C. Nellåker,
D. Niessing,
D. Hunt,
D. Baralle
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6 |
2017 |
6 🐜
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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
37 auth.
C. Coughlin,
L. Tseng,
J. Abdenur,
C. Ashmore,
F. Boemer,
L. Bok,
M. Boyer,
D. Buhas,
P. Clayton,
A. Das,
Hanka Dekker,
A. Evangeliou,
F. Feillet,
E. Footitt,
S. Gospe,
...
H. Hartmann,
Majdi Kara,
E. Kristensen,
J. Lee,
R. Lilje,
N. Longo,
R. Lunsing,
P. Mills,
M. Papadopoulou,
P. Pearl,
F. Piazzon,
B. Plecko,
A. Saini,
S. Santra,
D. Sjarif,
S. Stockler-Ipsiroglu,
P. Striano,
J. V. Van Hove,
N. Verhoeven-Duif,
F. Wijburg,
S. Zuberi,
C. V. van Karnebeek
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6 |
2020 |
6 🐜
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