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Jasmin Blatterer
22  results:
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1

Analysis of a non‐lethal biallelic frameshift mutation in Z..:

Kaufmann, Lukas ; Pilic, Johannes ; Auinger, Lisa...
Clinical Genetics.  104 (2023)  4 - p. 491-496 , 2023
Link: https://doi.org/10.1111/..
 
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2

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y. ; Daw, Jil ; Huynh, Diana...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1959-1975 , 2023
Link: https://doi.org/10.1016/..
 
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3

An exceptional biallelic N-terminal frame shift mutation in..:

Schaflinger, Erich ; Blatterer, Jasmin ; Khan, Aiman Saeed...
Gene.  833 (2022)  - p. 146582 , 2022
Link: https://doi.org/10.1016/..
 
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4

Novel subtype of mucopolysaccharidosis caused by arylsulfat..:

Verheyen, Sarah ; Blatterer, Jasmin ; Speicher, Michael R...
Journal of Medical Genetics.  59 (2021)  10 - p. 957-964 , 2021
Link: https://doi.org/10.1136/..
 
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5

A novel protein truncating mutation in L2HGDH causes L-2-hy..:

Muzammal, Muhammad ; Ali, Muhammad Zeeshan ; Brugger, Beatrice...
Metabolic Brain Disease.  37 (2021)  1 - p. 243-252 , 2021
Link: https://doi.org/10.1007/..
 
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6

Variants in the degron of AFF3 are associated with intellec..:

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia...
The American Journal of Human Genetics.  108 (2021)  5 - p. 857-873 , 2021
Link: https://doi.org/10.1016/..
 
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7

Cardio-pathogenic variants in unexplained intrauterine feta..:

Muin, Dana A. ; Kollmann, Martina ; Blatterer, Jasmin...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

Biallelic truncating variants in ATP9A cause a novel neurod..:

Vogt, Guido ; Verheyen, Sarah ; Schwartzmann, Sarina...
Journal of Medical Genetics.  59 (2021)  7 - p. 662-668 , 2021
Link: https://doi.org/10.1136/..
 
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9

Identification of a novel protein truncating mutation p.Asp..:

Ali, Muhammad Z. ; Blatterer, Jasmin ; Khan, Muzammil A....
Molecular Genetics & Genomic Medicine.  8 (2020)  2 - p. , 2020
Link: https://doi.org/10.1002/..
 
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10

Exome sequence analysis in consanguineous Pakistani familie..:

Muzammal, Muhammad ; Zubair, Muhammad ; Bierbaumer, Sophie...
Molecular Genetics & Genomic Medicine.  7 (2019)  8 - p. , 2019
Link: https://doi.org/10.1002/..
 
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11

Cardio-pathogenic variants in unexplained intrauterine feta..:

Dana A. Muin ; Martina Kollmann ; Jasmin Blatterer...
https://doi.org/10.1038/s41598-021-85893-0.  , 2021
Link: https://doi.org/10.1038/..
 
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12

Identification of a novel protein truncating mutation p.Asp..:

Muhammad Z. Ali ; Jasmin Blatterer ; Muzammil A. Khan...
https://doi.org/10.1002/mgg3.1060.  , 2020
Link: https://doi.org/10.1002/..
 
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13

Exome sequence analysis in consanguineous Pakistani familie..:

Muhammad Muzammal ; Muhammad Zubair ; Sophie Bierbaumer...
https://doi.org/10.1002/mgg3.834.  , 2019
Link: https://doi.org/10.1002/..
 
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14

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y ; Daw, Jil ; Huynh, Diana...
https://ars.els-cdn.com/content/image/1-s2.0-S0002929723003609-mmc1.pdf.  , 2023
Link: https://doi.org/10.1016/..
 
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15

Novel subtype of mucopolysaccharidosis caused by arylsulfat..:

Verheyen, Sarah ; Blatterer, Jasmin ; Speicher, Michael R...
https://dspace.library.uu.nl/handle/1874/423593.  , 2022
Link: https://dspace.library.u..
 
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