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Herkert, Johanna C.
132  Ergebnisse:
Personensuche X
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1

Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R....
European Journal of Medical Genetics.  66 (2023)  1 - p. 104670 , 2023
Link: https://doi.org/10.1016/..
 
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Models of KPTN-related disorder implicate mTOR signalling i..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
Brain.  146 (2023)  11 - p. 4766-4783 , 2023
Link: https://doi.org/10.1093/..
 
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3

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Coh..:

van der Meulen, Marijke H. ; Herkert, Johanna C. ; den Boer, Susanna L....
Circulation: Genomic and Precision Medicine.  , 2022
Link: https://doi.org/10.1161/..
 
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4

Expanding the clinical spectrum of primary coenzyme Q10 def..:

Leeuwen, Lisette ; Lubout, Charlotte M. A. ; Nijenhuis, Hessel P....
Clinical Genetics.  102 (2022)  4 - p. 350-351 , 2022
Link: https://doi.org/10.1111/..
 
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5

Using symptom-based case predictions to identify host genet..:

van Blokland, Irene V. ; Lanting, Pauline ; Ori, Anil P. S....
PLOS ONE.  16 (2021)  8 - p. e0255402 , 2021
Link: https://doi.org/10.1371/..
 
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6

Lifelines COVID-19 cohort: investigating COVID-19 infection..:

Mc Intyre, Katherine ; Lanting, Pauline ; Deelen, Patrick...
BMJ Open.  11 (2021)  3 - p. e044474 , 2021
Link: https://doi.org/10.1136/..
 
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7

Expanding the clinical and genetic spectrum of ALPK3 varian..:

Herkert, Johanna C. ; Verhagen, Judith M.A. ; Yotti, Raquel...
American Heart Journal.  225 (2020)  - p. 108-119 , 2020
Link: https://doi.org/10.1016/..
 
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8

ZMYND11‐related syndromic intellectual disability: 16 patie..:

Yates, Thabo M. ; Drucker, Morgan ; Barnicoat, Angela...
Human Mutation.  41 (2020)  5 - p. 1042-1050 , 2020
Link: https://doi.org/10.1002/..
 
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9

Improving the diagnostic yield of exome- sequencing by pred..:

Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

Toward an effective exome-based genetic testing strategy in..:

Herkert, Johanna C. ; Abbott, Kristin M. ; Birnie, Erwin...
Genetics in Medicine.  20 (2018)  11 - p. 1374-1386 , 2018
Link: https://doi.org/10.1038/..
 
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11

Novel SPEG mutations in congenital myopathies: Genotype–phe..:

Qualls, Anita E. ; Donkervoort, Sandra ; Herkert, Johanna C....
Muscle & Nerve.  59 (2018)  3 - p. 357-362 , 2018
Link: https://doi.org/10.1002/..
 
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12

De novo, deleterious sequence variants that alter the trans..:

Slavotinek, Anne ; Risolino, Maurizio ; Losa, Marta...
Human Molecular Genetics.  26 (2017)  24 - p. 4849-4860 , 2017
Link: https://doi.org/10.1093/..
 
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13

A study of the clinical and radiological features in a coho..:

Terhal, Paulien A. ; Nievelstein, Rutger Jan A. J. ; Verver, Eva J. J....
American Journal of Medical Genetics Part A.  167 (2015)  3 - p. 461-475 , 2015
Link: https://doi.org/10.1002/..
 
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14

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics.  58 (2015)  5 - p. 279-292 , 2015
Link: https://doi.org/10.1016/..
 
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15

Calibration of Multiple In Silico Tools for Predicting Path..:

Thompson, Bryony A. ; Greenblatt, Marc S. ; Vallee, Maxime P....
Human Mutation.  34 (2012)  1 - p. 255-265 , 2012
Link: https://doi.org/10.1002/..
 
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