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Weterman, Marian A J
33  results:
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1

Pathogenic variants in three families with distal muscle in..:

Weterman, Marian A.J. ; Bronk, Marieke ; Jongejan, Aldo...
Neuromuscular Disorders.  33 (2023)  1 - p. 58-64 , 2023
Link: https://doi.org/10.1016/..
 
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2

Hypermorphic and hypomorphic AARS alleles in patients with ..:

Weterman, Marian A J ; Kuo, Molly ; Kenter, Susan B...
Human Molecular Genetics.  , 2018
Link: https://doi.org/10.1093/..
 
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3

LRSAM1-mediated ubiquitylation is disrupted in axonal Charc..:

Hakonen, Johanna E. ; Sorrentino, Vincenzo ; Avagliano Trezza, Rossella...
Human Molecular Genetics.  26 (2017)  11 - p. 2034-2041 , 2017
Link: https://doi.org/10.1093/..
 
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4

A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parki..:

Aerts, Marjolein B. ; Weterman, Marian A. J. ; Quadri, Marialuisa...
Annals of Clinical and Translational Neurology.  3 (2015)  2 - p. 146-149 , 2015
Link: https://doi.org/10.1002/..
 
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5

CLP1 Founder Mutation Links tRNA Splicing and Maturation to..:

Schaffer, Ashleigh E. ; Eggens, Veerle R.C. ; Caglayan, Ahmet Okay...
Cell.  157 (2014)  3 - p. 651-663 , 2014
Link: https://doi.org/10.1016/..
 
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6

Recessive MYL2 mutations cause infantile type I muscle fibr..:

Weterman, Marian A. J. ; Barth, Peter G. ; van Spaendonck-Zwarts, Karin Y....
Brain.  136 (2013)  1 - p. 282-293 , 2013
Link: https://doi.org/10.1093/..
 
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7

A frameshift mutation in LRSAM1 is responsible for a domina..:

Weterman, Marian A.J. ; Sorrentino, Vincenzo ; Kasher, Paul R....
Human Molecular Genetics.  21 (2011)  2 - p. 358-370 , 2011
Link: https://doi.org/10.1093/..
 
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8

tRNA splicing endonuclease mutations cause pontocerebellar ..:

Budde, Birgit S ; Namavar, Yasmin ; Barth, Peter G...
Nature Genetics.  40 (2008)  9 - p. 1113-1118 , 2008
Link: https://doi.org/10.1038/..
 
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9

Molecular analysis of primary gastric cancer, corresponding..:

Milne, Anya N.A. ; Sitarz, Robert ; Carvalho, Ralph...
Human Pathology.  38 (2007)  6 - p. 903-913 , 2007
Link: https://doi.org/10.1016/..
 
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10

A novel region of amplification at 11p12‐13 in gastric canc..:

Carvalho, Ralph ; Milne, Anya N. A. ; Polak, Mirjam..
Genes, Chromosomes and Cancer.  45 (2006)  10 - p. 967-975 , 2006
Link: https://doi.org/10.1002/..
 
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11

Nasal polyposis in Peutz–Jeghers syndrome: a distinct histo..:

de Leng, Wendy W J ; Westerman, Anne Marie ; Weterman, Marian A J...
Journal of Clinical Pathology.  60 (2006)  4 - p. 392-396 , 2006
Link: https://doi.org/10.1136/..
 
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12

Ductuloinsular Tumors of the Pancreas: Endocrine Tumors Wit..:

van Eeden, Susanne ; de Leng, Wendy W. J ; Offerhaus, G Johan A...
American Journal of Surgical Pathology.  28 (2004)  6 - p. 813-820 , 2004
Link: https://doi.org/10.1097/..
 
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13

Do Collision Tumors of the Gastroesophageal Junction Exist?..:

Milne, Anya N. A ; Carvalho, Ralph ; van Rees, Bas P...
American Journal of Surgical Pathology.  28 (2004)  11 - p. 1492-1498 , 2004
Link: https://doi.org/10.1097/..
 
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14

Cytogenetic and molecular analysis of early stage renal cel..:

Bodmer, Danielle ; Eleveld, Marc ; Ligtenberg, Marjolijn...
Cancer Genetics and Cytogenetics.  134 (2002)  1 - p. 6-12 , 2002
Link: https://doi.org/10.1016/..
 
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15

Molecular analysis of a familial case of renal cell cancer ..:

Eleveld, Marc J. ; Bodmer, Daniëlle ; Merkx, Gerard...
Genes, Chromosomes and Cancer.  31 (2001)  1 - p. 23-32 , 2001
Link: https://doi.org/10.1002/..
 
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