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Platzer, Konrad
161  results:
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1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics.  111 (2024)  4 - p. 742-760 , 2024
Link: https://doi.org/10.1016/..
 
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2

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1206-1221 , 2024
Link: https://doi.org/10.1016/..
 
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3

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports.  , 2024
Link: https://doi.org/10.1016/..
 
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4

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics.  104 (2023)  2 - p. 186-197 , 2023
Link: https://doi.org/10.1111/..
 
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5

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine.  25 (2023)  11 - p. 100950 , 2023
Link: https://doi.org/10.1016/..
 
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6

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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7

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics.  31 (2023)  8 - p. 905-917 , 2023
Link: https://doi.org/10.1038/..
 
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8

Monoallelic intragenic POU3F2 variants lead to neurodevelop..:

Schönauer, Ria ; Jin, Wenjun ; Findeisen, Christin...
The American Journal of Human Genetics.  110 (2023)  6 - p. 998-1007 , 2023
Link: https://doi.org/10.1016/..
 
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9

Epilepsies of presumed genetic etiology show enrichment of ..:

Bundalian, Linnaeus ; Su, Yin-Yuan ; Chen, Siwei...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1110-1122 , 2023
Link: https://doi.org/10.1016/..
 
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10

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine.  25 (2023)  8 - p. 100863 , 2023
Link: https://doi.org/10.1016/..
 
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11

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
Brain.  146 (2023)  8 - p. 3273-3288 , 2023
Link: https://doi.org/10.1093/..
 
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12

CNV-ClinViewer: enhancing the clinical interpretation of la..:

Macnee, Marie ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Bioinformatics.  39 (2023)  5 - p. , 2023
Link: https://doi.org/10.1093/..
 
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13

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics.  32 (2023)  14 - p. 2373-2385 , 2023
Link: https://doi.org/10.1093/..
 
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14

Bi-allelic variants inCHKAcause a neurodevelopmental disord..:

Klöckner, Chiara ; Fernández-Murray, J Pedro ; Tavasoli, Mahtab...
Brain.  145 (2022)  6 - p. 1916-1923 , 2022
Link: https://doi.org/10.1093/..
 
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15

Monogenetic epilepsies and how to approach them in 2022:

Krey, Ilona ; Platzer, Konrad ; Lemke, Johannes R.
Medizinische Genetik.  34 (2022)  3 - p. 201-205 , 2022
Link: https://doi.org/10.1515/..
 
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