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X
Punetha, J
144  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

High prevalence of multilocus pathogenic variation in neuro..:

Mitani T ; Isikay S ; Gezdirici A...
Am J Hum Genet.  , 2021
Link: https://hdl.handle.net/2..
 
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2

Biallelic and monoallelic variants in PLXNA1 are implicated..:

Dworschak, GC ; Punetha, J ; Kalanithy, JC...
https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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3

Biallelic and monoallelic variants in PLXNA1 are implicated..:

Dworschak, GC ; Punetha, J ; Kalanithy, JC...
https://openaccess.sgul.ac.uk/id/eprint/113364/1/s41436-021-01196-9.pdf.  , 2021
Link: https://openaccess.sgul...
 
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4

Homozygous missense variants in NTNG2, encoding a presynapt..:

Dias, CM ; Punetha, J ; Zheng, C...
doi:10.1016/j.ajhg.2019.09.025.  , 2020
Link: https://doi.org/10.1016/..
 
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5

Homozygous Missense Variants in NTNG2, Encoding a Presynapt..:

Dias, CM ; Punetha, J ; Zheng, C...
https://openaccess.sgul.ac.uk/id/eprint/111422/1/1-s2.0-S0002929719303866-main.pdf.  , 2019
Link: https://openaccess.sgul...
 
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6

Homozygous Missense Variants in NTNG2, Encoding a Presynapt..:

Dias C. M ; Punetha J ; Zheng C...
info:eu-repo/semantics/altIdentifier/pmid/31668703.  , 2019
Link: http://hdl.handle.net/11..
 
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7

Homozygous Missense Variants in NTNG2, Encoding a Presynapt..:

Dias, CM ; Punetha, J ; Zheng, C...
https://discovery.ucl.ac.uk/id/eprint/10085720/1/Houlden_Homozygous%20Missense%20Variants%20in%20NTNG2_VoR.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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8

Congenital Titinopathy: Comprehensive characterization and ..:

Oates, EC ; Jones, KJ ; Donkervoort, S...
issn:0364-5134.  , 2018
Link: http://hdl.handle.net/11..
 
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9

Congenital titinopathy: comprehensive characterisation and ..:

Oates, EC ; Jones, KJ ; Donkervoort, S...
Annals of Neurology.  , 2018
Link: http://hdl.handle.net/10..
 
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10

Diagnosis and aetiology of congenital muscular dystrophy: w..:

O'Grady, GL ; Lek, M ; Lamande, SR...
https://discovery.ucl.ac.uk/id/eprint/1494607/1/muntoni_CMD%20cohort%20paper%20V6.pdf.  , 2016
Link: https://discovery.ucl.ac..
 
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11

Mutations in GDP-mannose pyrophosphorylase b cause congenit..:

Moore, SA ; Messina, S ; Bertini, E...
American Journal of Human Genetics.  , 2016
Link: http://qmro.qmul.ac.uk/x..
 
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12

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenit..:

Carss, KJ ; Stevens, E ; Foley, AR...
AMERICAN JOURNAL OF HUMAN GENETICS.  , 2016
Link: http://qmro.qmul.ac.uk/x..
 
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13

Genetic modifiers of ambulation in the CINRG duchenne natur..:

BELLO, LUCA ; PEGORARO, ELENA ; Kesari A...
info:eu-repo/semantics/altIdentifier/pmid/25641372.  , 2015
Link: http://hdl.handle.net/11..
 
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14

Volatile constituents of Geranium wallichianum D. Don ex Sw..:

K. Tewari ; C. Pande ; G. Tewari..
doi:10.5281/zenodo.5606475.  , 2015
Link: https://zenodo.org/recor..
 
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15

Genetic modifiers of ambulation in the Cooperative Internat..:

Bello, L ; Kesari, A ; Gordish-Dressman, H...
issn:0364-5134.  , 2015
Link: http://hdl.handle.net/11..
 
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