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1 . Academic Journal
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
The American Journal of Human Genetics
3 August 2023 110(8):1377-1393
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7 . Academic Journal
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
저자
by
Biddle, Joseph
;
Campbell, Teresa
;
Sanchis-Juan, Alba
;
Lemire, Gabrielle
;
Rodan, Lance
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (ScienceDirect)
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7 . Academic Journal
P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria
저자
by
Lai, Abbe
;
Neil, Jennifer
;
Rodan, Lance
;
El Achkar, Achkar Moufawad
;
Akula, Shyam
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 . Academic Journal
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
저자
by
Chen, Yuyang
;
Dawes, Ruebena
;
Kim, Hyung Chul
;
Ljungdahl, Alicia
;
Stenton, Sarah L.
, et al.
소스
Nature: International weekly journal of science
. 632(8026):832-840
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7 . Academic Journal
O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients*
저자
by
Gerald, Dayebgadoh
;
Tortorelli, Silvia
;
White, Amy
;
Peck, Dawn
;
Pino, Gisele
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Periodical
De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome
저자
by
Chen, Yuyang
;
Dawes, Ruebena
;
Kim, Hyung Chul
;
Ljungdahl, Alicia
;
Stenton, Sarah L.
, et al.
소스
Nature; 20240101, Issue: Preprints p1-9, 9p
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7 . Academic Journal
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
저자
by
Gracia-Diaz, Carolina
;
Zhou, Yijing
;
Yang, Qian
;
Maroofian, Reza
;
Espana-Bonilla, Paula
, et al.
소스
Nature Communications; 7/11/2023, Vol. 14 Issue 1, p1-18, 18p
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7 . Academic Journal
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
저자
by
Cordovado, Amélie
;
Schaettin, Martina
;
Jeanne, Médéric
;
Panasenkava, Veranika
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
Human Molecular Genetics; Oct2022, Vol. 31 Issue 19, p3325-3340, 16p
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7 . Periodical
Biallelic PRMT7pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
저자
by
Cali, Elisa
;
Suri, Mohnish
;
Scala, Marcello
;
Ferla, Matteo P.
;
Alavi, Shahryar
, et al.
소스
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p135-142, 8p
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7 . Academic Journal
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
저자
by
O'Grady, Lauren
;
Schrier Vergano, Samantha A.
;
Hoffman, Trevor L.
;
Sarco, Dean
;
Cherny, Sara
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2750-2759, 10p
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