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1 . Academic Journal
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
저자
by
Banks, Emily
;
Francis, Vincent
;
Lin, Sheng-Jia
;
Kharfallah, Fares
;
Fonov, Vladimir
, et al.
소스
Nature Communications
. 15(1)
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7 . Academic Journal
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO.
저자
by
Hoffman, Trevor L.
;
Kershberg, Hilary
;
Goff, John
;
Holmquist, Kimberly J.
;
Haque, Reina
, et al.
소스
Familial Cancer; Apr2023, Vol. 22 Issue 2, p225-235, 11p
Scopus
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7 . Academic Journal
Genetics of Craniosynostosis
저자
by
Kimonis, Virginia
;
Gold, June-Anne
;
Hoffman, Trevor L.
;
Panchal, Jayesh
;
Boyadjiev, Simeon A.
.
소스
In
Seminars in Pediatric Neurology
2007 14(3):150-161
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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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7 . Academic Journal
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
저자
by
Djordjevic, Djurdja
;
Pinard, Maxime
;
Gauthier, Marie-Soleil
;
Smith-Hicks, Constance
;
Hoffman, Trevor L.
, et al.
소스
American Journal of Human Genetics
. Apr2022, Vol. 109 Issue 4, p759-763. 5p.
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7 . Academic Journal
Derivation and Biological Characterization of a Molecular Clone of SHIVKU-2 That Causes AIDS, Neurological Disease, and Renal Disease in Rhesus Macaques
저자
by
Liu, Zhen Qian
;
Muhkerjee, Sampa
;
Sahni, Manisha
;
McCormick-Davis, Coleen
;
Leung, Kevin
, et al.
소스
In
Virology
1 August 1999 260(2):295-307
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7 . Academic Journal
Challenging the Norm: Is Routine Use of Cranial CT in Evaluation of Craniosynostosis Necessary?
저자
by
Fahradyan, Artur
;
Daneshgaran, Giulia
;
Hoffman, Trevor L.
;
Wexler, Andrew
;
Francis, Stacey H.
.
소스
Journal of Craniofacial Surgery; Oct2021, Vol. 32 Issue 7, p2496-2499, 4p
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7 . Periodical
Characterization of SETD1Ahaploinsufficiency in humans and Drosophiladefines a novel neurodevelopmental syndrome
저자
by
Kummeling, Joost
;
Stremmelaar, Diante E.
;
Raun, Nicholas
;
Reijnders, Margot R. F.
;
Willemsen, Marjolein H.
, et al.
소스
Molecular Psychiatry; June 2021, Vol. 26 Issue: 6 p2013-2024, 12p
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7 . Academic Journal
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
저자
by
Kummeling, Joost
;
Stremmelaar, Diante E.
;
Raun, Nicholas
;
Reijnders, Margot R. F.
;
Willemsen, Marjolein H.
, et al.
소스
Molecular Psychiatry
. 26(6):2013-2024
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7 . Academic Journal
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
저자
by
Muir, Alison M.
;
Gardner, Jennifer F.
;
van Jaarsveld, Richard H.
;
de Lange, Iris M.
;
van der Smagt, Jasper J.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(5):881-887
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