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Kruer, MC
23  results:
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1

P.075 Clinical spectrum of POLR3-related leukodystrophy cau..:

Gauquelin, L ; Cayami, FK ; Sztriha, L...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  46 (2019)  s1 - p. S34 , 2019
Link: https://doi.org/10.1017/..
 
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2

Identification of critical regions for clinical features of..:

Yatsenko, SA ; Kruer, MC ; Bader, PI...
Clinical Genetics.  76 (2009)  1 - p. 54-62 , 2009
Link: https://doi.org/10.1111/..
 
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3

The role of evidence‐based medicine and clinical trials in ..:

Kruer, MC ; Steiner, RD
Clinical Genetics.  74 (2008)  3 - p. 197-207 , 2008
Link: https://doi.org/10.1111/..
 
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4

Common data elements to standardize genomics studies in cer..:

Wilson, YA ; Smithers-Sheedy, H ; Ostojic, K...
issn:0012-1622.  , 2022
Link: http://hdl.handle.net/11..
 
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5

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, S ; Perez-Jurado, LA ; Palomares, M...
issn:1098-3600.  , 2022
Link: http://hdl.handle.net/11..
 
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6

Recessive COL4A2 Mutation Leads to Intellectual Disability,..:

Bakhtiari, S ; Tafakhori, A ; Jin, SC...
issn:2376-7839.  , 2021
Link: http://hdl.handle.net/11..
 
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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..
 
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8

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..
 
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9

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..
 
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10

Insights From Genetic Studies of Cerebral Palsy:

Lewis, SA ; Shetty, S ; Wilson, BA...
issn:1664-2295.  , 2020
Link: http://hdl.handle.net/11..
 
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11

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..
 
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12

Genetic and phenotypic characterization of NKX6‐2‐related s..:

Chelban, V ; Alsagob, M ; Kloth, K...
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdf.  , 2020
Link: https://openaccess.sgul...
 
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13

Loss of Frrs1l disrupts synaptic AMPA receptor function, an..:

Stewart, M ; Lau, P ; Banks, G...
https://discovery.ucl.ac.uk/id/eprint/10068448/1/Stewart_mm.036806.full.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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14

Genetic or Other Causation Should Not Change the Clinical D..:

MacLennan, AH ; Lewis, S ; Moreno-De-Luca, A...
https://discovery.ucl.ac.uk/id/eprint/10072579/1/MacLennan_0883073819840449.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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15

Bi-allelic variants in RNF170 are associated with hereditar..:

Wagner, M ; Osborn, DPS ; Gehweiler, I...
https://openaccess.sgul.ac.uk/id/eprint/111325/21/s41467-019-12620-9.pdf.  , 2019
Link: https://openaccess.sgul...
 
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