E-LIB Suche - Ergebnisse für: Jin, SC

1

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

2

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..

3

Recessive COL4A2 Mutation Leads to Intellectual Disability,..:

Bakhtiari, S ; Tafakhori, A ; Jin, SC...
issn:2376-7839. , 2021

Link: http://hdl.handle.net/11..

4

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..

5

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..

6

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..

7

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..

8

Insights From Genetic Studies of Cerebral Palsy:

Lewis, SA ; Shetty, S ; Wilson, BA...
issn:1664-2295. , 2020

Link: http://hdl.handle.net/11..

9

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..

10

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..

11

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..

12

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..

13

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..

14

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..

15

De Novo Mutation in Genes Regulating Neural Stem Cell Fate ..:

Furey, CG ; Choi, J ; Jin, SC...
https://discovery.ucl.ac.uk/id/eprint/10052459/1/NEURON_shozeb.pdf. , 2018

Link: https://discovery.ucl.ac..