|
🐜
|
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
83 auth.
Frank J. Kaiser,
Morad Ansari,
D. Braunholz,
María Concepción Gil-Rodríguez,
C. Decroos,
Jonathan J. Wilde,
Christopher T. Fincher,
M. Kaur,
M. Bando,
David J. Amor,
P. Atwal,
M. Bahlo,
Christine M. Bowman,
Jacquelyn J. Bradley,
H. Brunner,
...
Dinah Clark,
Miguel del Campo,
N. Di Donato,
Peter Diakumis,
Holly A. Dubbs,
D. Dyment,
Juliane Eckhold,
Sarah Ernst,
Jose C. Ferreira,
Lauren J. Francey,
U. Gehlken,
E. Guillén-Navarro,
Y. Gyftodimou,
Bryan D. Hall,
R. Hennekam,
L. Hudgins,
Melanie A. Hullings,
Jennifer M. Hunter,
H. Yntema,
A. Innes,
A. Kline,
Z. Krūmiņa,
Hane Lee,
K. Leppig,
S. Lynch,
M. Mallozzi,
Linda Mannini,
S. McKee,
S. Mehta,
I. Micule,
S. Mohammed,
E. Moran,
G. Mortier,
J.-A.S. Moser,
Sarah E. Noon,
N. Nozaki,
L. Nunes,
J. Pappas,
L. Penney,
A. Pérez-Aytés,
Michael B. Petersen,
B. Puisac,
N. Revencu,
E. Roeder,
S. Saitta,
Angela E. Scheuerle,
Karen Schindeler,
Victoria M. Siu,
Zornitza Stark,
Samuel P. Strom,
Heidi A. Thiese,
I. Vater,
P. Willems,
K. Williamson,
L. Wilson,
H. Hakonarson,
F. Quintero-Rivera,
J. Wierzba,
A. Musio,
G. Gillessen‐Kaesbach,
F. Ramos,
Laird G. Jackson,
K. Shirahige,
J. Pié,
David W. Christianson,
I. Krantz,
David R Fitzpatrick,
M. Deardorff
|
7 |
2014 |
7
🐜
|
|
🐜
|
Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease
12 auth.
E. Millere,
D. Rots,
Joel Simrén,
N. Ashton,
Einars Kupats,
I. Micule,
...
V. Priedīte,
N. Kurjāne,
K. Blennow,
L. Gailīte,
H. Zetterberg,
V. Ķēniņa
|
5 |
2020 |
5
🐜
|
|
🐜
|
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
96 auth.
M. Kaur,
J. Blair,
B. Devkota,
Sierra Fortunato,
Dinah Clark,
Audrey Lawrence,
Wonwook Do,
Benjamin Semeo,
Olivia L. Katz,
D. Mehta,
Nobuko Yamamoto,
Emma A Schindler,
Zayd Al Rawi,
Nina Wallace,
Jonathan J. Wilde,
...
Jennifer McCallum,
Jinglan Liu,
Dongbin Xu,
M. Jackson,
Stefan Rentas,
A. A. Tayoun,
Zhang Zhe,
Omar Abdul-Rahman,
Bill Allen,
Moris A Angula,
K. Anyane-Yeboa,
J. Argente,
P. Arn,
L. Armstrong,
L. Basel-Salmon,
G. Baynam,
L. Bird,
D. Bruegger,
G. Ch'ng,
D. Chitayat,
Robin Clark,
G. Cox,
U. Dave,
Elfrede DeBaere,
M. Field,
J. Graham,
K. Gripp,
R. Greenstein,
Neerja Gupta,
R. Heidenreich,
J. Hoffman,
R. Hopkin,
K. Jones,
Marilyn C. Jones,
A. Kariminejad,
J. Kogan,
B. Lāce,
Julian Leroy,
S. Lynch,
M. McDonald,
Kirsten Meagher,
N. Mendelsohn,
I. Micule,
J. Moeschler,
S. Nampoothiri,
K. Ohashi,
C. Powell,
Subhadra Ramanathan,
S. Raskin,
E. Roeder,
M. Rio,
A. Rope,
Karan Sangha,
A. Scheuerle,
A. Schneider,
S. Shalev,
V. Siu,
Rosemarie Smith,
C. Stevens,
T. Tkemaladze,
John Toimie,
H. Toriello,
A. Turner,
P. Wheeler,
S. White,
T. Young,
K. Loomes,
Mary Pipan,
A. Harrington,
E. Zackai,
R. Rajagopalan,
L. Conlin,
M. Deardorff,
D. McEldrew,
J. Pié,
F. Ramos,
A. Musio,
A. Kline,
K. Izumi,
S. Raible,
I. Krantz
|
4 |
2023 |
4
🐜
|
|
🐜
|
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients
9 auth.
M. Celmiņa,
I. Micule,
I. Inashkina,
M. Audere,
S. Kušķe,
J. Pereca,
...
J. Stavusis,
D. Pelnena,
J. Strautmanis
|
4 |
2018 |
4
🐜
|
|
🐜
|
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
35 auth.
Sen Zhao,
Yuanqiang Zhang,
Sigrún Hallgrímsdóttir,
Yuzhi Zuo,
Xiaoxin Li,
Dominyka Batkovskyte,
Sen Liu,
Hillevi Lindelöf,
Shengru Wang,
A. Hammarsjö,
Yang Yang,
Yongyu Ye,
Lianlei Wang,
Zihui Yan,
Jiachen Lin,
...
Chenxi Yu,
Zefu Chen,
Y. Niu,
Huizi Wang,
Zhipeng Zhao,
Pengfei Liu,
G. Qiu,
J. Posey,
Zhihong Wu,
J. Lupski,
I. Micule,
B. Anderlid,
Ulrika Voss,
Dennis Sulander,
E. Kuchinskaya,
A. Nordgren,
O. Nilsson,
T. Zhang,
G. Grigelioniene,
N. Wu
|
3 |
2022 |
3
🐜
|
|
🐜
|
From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia
12 auth.
A. Krūmiņa,
J. Keišs,
V. Sondore,
A. Chernushenko,
G. Cernevska,
A. Zarina,
...
I. Micule,
L. Piekuse,
M. Kreile,
B. Lāce,
Z. Krūmiņa,
B. Rozentāle
|
3 |
2008 |
3
🐜
|
|
🐜
|
New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study
9 auth.
L. Gailīte,
O. Šterna,
M. Konika,
Aleksejs Isakovs,
J. Isakova,
I. Micule,
...
Signe Setlere,
Mikus Dīriks,
Madara Auzenbaha
|
3 |
2022 |
3
🐜
|
|
🐜
|
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
15 auth.
I. Inashkina,
E. Jankevics,
J. Stavusis,
I. Vasiljeva,
Kristīne Vīksne,
I. Micule,
J. Strautmanis,
M. S. Naudina,
L. Cimbalistienė,
V. Kučinskas,
...
A. Krūmiņa,
A. Utkus,
B. Burnytė,
A. Matulevičienė,
B. Lāce
|
3 |
2016 |
3
🐜
|
