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Schouten, Meyke
49  results:
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1

Respiratory insufficiency as a presenting symptom of congen..:

van den Udenhout, Fleur ; Merkus, Peter ; Verhaagen‐van den Akker, Sandra...
Acta Paediatrica.  112 (2023)  5 - p. 1091-1096 , 2023
Link: https://doi.org/10.1111/..
 
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2

Copy number variants from 4800 exomes contribute to ~7% of ..:

Pennings, Maartje ; Meijer, Rowdy P. P. ; Gerrits, Monique...
European Journal of Human Genetics.  31 (2023)  6 - p. 654-662 , 2023
Link: https://doi.org/10.1038/..
 
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3

Orthognathic surgery in RYR1-related congenital myopathy: a..:

van der Kooi, Anneke J. ; de Lange, Jan ; Schouten, Meyke...
Neuromuscular Disorders.  33 (2023)  12 - p. 988-989 , 2023
Link: https://doi.org/10.1016/..
 
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4

Integrin α7 Mutations Are Associated With Adult‐Onset Cardi..:

Bugiardini, Enrico ; Nunes, Andreia M. ; Oliveira‐Santos, Ariany...
Journal of the American Heart Association.  11 (2022)  23 - p. , 2022
Link: https://doi.org/10.1161/..
 
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5

Systematic analysis of short tandem repeats in 38,095 exome..:

van der Sanden, Bart P.G.H. ; Corominas, Jordi ; de Groot, Michelle...
Genetics in Medicine.  23 (2021)  8 - p. 1569-1573 , 2021
Link: https://doi.org/10.1038/..
 
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6

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi...
European Journal of Human Genetics.  29 (2021)  4 - p. 625-636 , 2021
Link: https://doi.org/10.1038/..
 
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7

Clinical, genetic, and histological features of centronucle..:

Reumers, Stacha F. I. ; Erasmus, Corrie E. ; Bouman, Karlijn...
Clinical Genetics.  100 (2021)  6 - p. 692-702 , 2021
Link: https://doi.org/10.1111/..
 
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8

Spectrum of Clinical Features in X-Linked Myotubular Myopat..:

Reumers, Stacha F.I. ; Braun, Frederik ; Spillane, Jennifer E....
Neurology.  97 (2021)  5 - p. , 2021
Link: https://doi.org/10.1212/..
 
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9

Biallelic variants inLARS2andKARScause deafness and (ovario..:

van der Knaap, Marjo S. ; Bugiani, Marianna ; Mendes, Marisa I....
Neurology.  92 (2019)  11 - p. , 2019
Link: https://doi.org/10.1212/..
 
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10

PREPL deficiency: delineation of the phenotype and developm..:

Régal, Luc ; Mårtensson, Emma ; Maystadt, Isabelle...
Genetics in Medicine.  20 (2018)  1 - p. 109-118 , 2018
Link: https://doi.org/10.1038/..
 
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11

PREPL deficiency: delineation of the phenotype and developm..:

Regal, Luc ; Martensson, Emma ; Maystadt, Isabelle...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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12

The Genetic Homogeneity of CAPOS Syndrome: Four New Patient..:

Maas, Roderick P.P.W.M. ; Schieving, Jolanda H. ; Schouten, Meyke..
Pediatric Neurology.  59 (2016)  - p. 71-75.e1 , 2016
Link: https://doi.org/10.1016/..
 
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13

Osteopathia striata with cranial sclerosis owing to WTX gen..:

Perdu, Bram ; Freitas, Fenna de ; Frints, Suzanne GM...
Journal of Bone and Mineral Research.  25 (2010)  1 - p. 82-90 , 2010
Link: https://doi.org/10.1359/..
 
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14

Genetic Cancer Susceptibility in Adolescents and Adults 25 ..:

Jongmans, Marjolijn C.J. ; Zhang, Junxiao ; Kuiper, Roland P....
Gastroenterology.  162 (2022)  3 - p. 969-974.e6 , 2022
Link: https://doi.org/10.1053/..
 
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15

The complexities of CACNA1A in clinical neurogenetics:

Hommersom, Marina P. ; van Prooije, Teije H. ; Pennings, Maartje...
Journal of Neurology.  269 (2021)  6 - p. 3094-3108 , 2021
Link: https://doi.org/10.1007/..
 
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