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1 . Academic Journal
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
저자
by
Warfield, Simon K.
;
Scherrer, Benoit
;
Filip-Dhima, Rajna
;
Dies, Kira
;
Siper, Paige
, et al.
소스
In
Human Genetics and Genomics Advances
12 January 2023 4(1)
Full Text (Clinical Key)
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7 . Academic Journal
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
저자
by
Buttermore, Elizabeth
;
Chamberlain, Stormy
;
Cody, Jannine
;
Costain, Gregory
;
Dang, Louis
, et al.
소스
In
The American Journal of Human Genetics
4 August 2022 109(8):1353-1365
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7 . Academic Journal
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex
저자
by
Pearson, Deborah
;
Williams, Marian E.
;
Hanson, Ellen
;
Bing, Nicole
;
Kent, Bridget
, et al.
소스
In
Epilepsy Research
December 2018 148:1-7
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7 . Academic Journal
Updated consensus guidelines on the management of Phelan–McDermid syndrome.
저자
by
Srivastava, Siddharth
;
Sahin, Mustafa
;
Buxbaum, Joseph D.
;
Berry‐Kravis, Elizabeth
;
Soorya, Latha Valluripalli
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2015-2044, 30p
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7 . Academic Journal
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
저자
by
Srivastava, Siddharth
;
Condy, Emma
;
Carmody, Erin
;
Filip-Dhima, Rajna
;
Kapur, Kush
, et al.
소스
Journal of Neurodevelopmental Disorders; 11/5/2021, Vol. 13 Issue 1, p1-12, 12p
Open Access (BioMed Central)
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7 . Academic Journal
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.
저자
by
Frazier, Thomas W.
;
Jaini, Ritika
;
Busch, Robyn M.
;
Wolf, Matthew
;
Sadler, Tammy
, et al.
소스
Molecular Autism
. 1/28/2021, Vol. 12 Issue 1, p1-14. 14p.
Open Access (BioMed Central)
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7 . Academic Journal
Clinical and genetic characterization of
AP4B1
‐associated SPG47.
저자
by
Ebrahimi‐Fakhari, Darius
;
Cheng, Chi
;
Dies, Kira
;
Diplock, Amelia
;
Pier, Danielle B.
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2018, Vol. 176 Issue 2, p311-318, 8p
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7 . Academic Journal
Clinical and genetic characterization of AP4B1‐associated SPG47
저자
by
Ebrahimi‐Fakhari, Darius
;
Cheng, Chi
;
Dies, Kira
;
Diplock, Amelia
;
Pier, Danielle B.
, et al.
소스
American Journal of Medical Genetics Part A
. Feb 01, 2018 176(2):311-318
Scopus
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7 . Academic Journal
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.
저자
by
Srivastava, Siddharth
;
Gubbels, Cynthia S.
;
Dies, Kira
;
Fulton, Anne
;
Yu, Timothy
, et al.
소스
Journal of Child Neurology
. Aug2017, Vol. 32 Issue 9, p840-845. 6p.
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7 . Academic Journal
eP516 - Patterns of healthcare utilization in a pediatric genetic cohort.
저자
by
Nagy, Anna
;
Kritzer, Amy
;
Dies, Kira
;
Brewster, Stephanie
.
소스
Molecular Genetics & Metabolism
. 2021 Supplement 1, Vol. 132, pS333-S334. 2p.
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