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Jin, SC
190
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Online (190)
Mediatypes
Articles (Online) (12)
Bookchapter (Online) (2)
OpenAccess-fulltext (176)
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1
Spontaneous Healing of Iatrogenic Direct Carotid Cavernous ..:
Kwon, H-J.
;
Jin, S-C.
Interventional Neuroradiology. 18 (2012) 2 - p. 187-190 , 2012
Link:
https://doi.org/10.1177/..
?
2
Genomic approaches to improve the clinical diagnosis and ma..:
Allington, G
;
Duy, PQ
;
Ryou, J
...
https://discovery.ucl.ac.uk/id/eprint/10142959/7/JNS_Revision_Final.docx. , 2022
Link:
https://discovery.ucl.ac..
?
3
Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:
Richard, EM
;
Bakhtiari, S
;
Marsh, APL
...
https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf. , 2021
Link:
https://discovery.ucl.ac..
?
4
Recessive COL4A2 Mutation Leads to Intellectual Disability,..:
Bakhtiari, S
;
Tafakhori, A
;
Jin, SC
...
issn:2376-7839. , 2021
Link:
http://hdl.handle.net/11..
?
5
DIAPH1 Variants in Non-East Asian Patients With Sporadic Mo..:
Kundishora, AJ
;
Peters, ST
;
Pinard, A
...
https://discovery.ucl.ac.uk/id/eprint/10130640/. , 2021
Link:
https://discovery.ucl.ac..
?
6
Biallelic variants in HPDL cause pure and complicated hered..:
Wiessner, M
;
Maroofian, R
;
Ni, M-Y
...
https://discovery.ucl.ac.uk/id/eprint/10128647/3/Houlden_BRAIN%202020-01588_manuscript_R1_plain%20copy.pdf. , 2021
Link:
https://discovery.ucl.ac..
?
7
Biallelic AOPEP Loss-of-Function Variants Cause Progressive..:
Zech, M
;
Kumar, KR
;
Reining, S
...
https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdf. , 2021
Link:
https://discovery.ucl.ac..
?
8
Mutations disrupting neuritogenesis genes confer risk for c..:
Jin, SC
;
Lewis, SA
;
Bakhtiari, S
...
https://discovery.ucl.ac.uk/id/eprint/10111345/3/Shozeb_CP%20Genomics%20RESUBMISSION_FINAL.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
9
Insights From Genetic Studies of Cerebral Palsy:
Lewis, SA
;
Shetty, S
;
Wilson, BA
...
issn:1664-2295. , 2020
Link:
http://hdl.handle.net/11..
?
10
Loss of TNR causes a nonprogressive neurodevelopmental diso..:
Wagner, M
;
Levy, J
;
Jung-Klawitter, S
...
https://discovery.ucl.ac.uk/id/eprint/10094729/1/TNR,%20Wagner,%20M%20et%20al.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
11
Exome sequencing implicates genetic disruption of prenatal ..:
Jin, SC
;
Dong, W
;
Kundishora, AJ
...
https://discovery.ucl.ac.uk/id/eprint/10113597/1/258248_0_art_file_4643678_q5x551_convrt.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
12
Exome Sequencing Implicates Impaired GABA Signaling and Neu..:
Dong, W
;
Jin, SC
;
Allocco, A
...
https://discovery.ucl.ac.uk/id/eprint/10112758/1/1-s2.0-S2589004220307446-main.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
13
Mutations in TFAP2B and previously unimplicated genes of th..:
Timberlake, AT
;
Jin, SC
;
Nelson-Williams, C
...
https://discovery.ucl.ac.uk/id/eprint/10078407/7/Shozeb_Mutations%20in%20TFAP2B%20and%20previously%20unimplicated%20genes%20of%20the%20BMP,%20Wnt,%20and%20Hedgehog%20pathways%20in%20syndromic%20craniosynostosis_VoR.pdf. , 2019
Link:
https://discovery.ucl.ac..
?
14
Recessive Inheritance of Congenital Hydrocephalus With Othe..:
Allocco, AA
;
Jin, SC
;
Duy, PQ
...
https://discovery.ucl.ac.uk/id/eprint/10084008/1/fncel-13-00425.pdf. , 2019
Link:
https://discovery.ucl.ac..
?
15
Mutations in Chromatin Modifier and Ephrin Signaling Genes ..:
Duran, D
;
Zeng, X
;
Jin, SC
...
https://discovery.ucl.ac.uk/id/eprint/10066012/1/NEURON-D-18-00951_R1%20copy.pdf. , 2019
Link:
https://discovery.ucl.ac..
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