scholarly journals EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

2019 ◽  
Vol 84 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Eszter Vojcek ◽  
Tália Magdolna Keszthelyi ◽  
Eszter Jávorszky ◽  
Lídia Balogh ◽  
Kálmán Tory
Keyword(s):  
Sibling Pair

Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

2019 ◽  
Vol 41 (2) ◽  
pp. 412-419 ◽  
Author(s):  
Carmel G. McCullough ◽  
Szabolcs Szelinger ◽  
Newell Belnap ◽  
Keri Ramsey ◽  
Isabelle Schrauwen ◽  
...  
Keyword(s):  
Sibling Pair ◽  
Outlier Analysis ◽  
Spastic Paraplegia

Bone Health and Age of Commencement of Anti-epileptic Medication: An AED-Discordant Twin and Sibling Pair Study

2009 ◽  
Vol 16 (11) ◽  
pp. 1522
Author(s):  
Sandra Petty ◽  
Lynda Paton ◽  
Mary Sakellarides ◽  
Kate Lawrence ◽  
Samuel Berkovic ◽  
...  
Keyword(s):  
Bone Health ◽  
Sibling Pair ◽  
Discordant Twin

Examination of Rare Missense Variants in theCHRNA5-A3-B4Gene Cluster to Level of Response to Alcohol in the San Diego Sibling Pair Study

2013 ◽  
Vol 37 (8) ◽  
pp. 1311-1316 ◽  
Author(s):  
Hélène Choquet ◽  
Geoff Joslyn ◽  
Andrew Lee ◽  
Jay Kasberger ◽  
Margaret Robertson ◽  
...  
Keyword(s):  
San Diego ◽  
Sibling Pair ◽  
Missense Variants

Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis

1999 ◽  
Vol 105 (3) ◽  
pp. 253-257 ◽  
Author(s):  
N. Ota ◽  
S.C. Hunt ◽  
T. Nakajima ◽  
T. Suzuki ◽  
T. Hosoi ◽  
...  
Keyword(s):  
Interleukin 6 ◽  
Sibling Pair ◽  
Pair Analysis

scholarly journals TRIM28 congenital predisposition to Wilms’ tumor: novel mutations and presentation in a sibling pair

2020 ◽  
Vol 6 (4) ◽  
pp. a004796 ◽  
Author(s):  
Colin Moore ◽  
Hector Monforte ◽  
Jamie K. Teer ◽  
Yonghong Zhang ◽  
Sean Yoder ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Sibling Pair ◽  
Novel Mutations

scholarly journals Feasibility of an Affected Sibling Pair Study in Ischemic Stroke

Stroke ◽  
2001 ◽  
Vol 32 (12) ◽  
pp. 2939-2941 ◽  
Author(s):  
James F. Meschia ◽  
Robert D. Brown ◽  
Thomas G. Brott ◽  
John Hardy ◽  
Elizabeth J. Atkinson ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Sibling Pair ◽  
Affected Sibling ◽  
Affected Sibling Pair
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