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Porrmann, Joseph
19
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Online (19)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (9)
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?
1
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/..
?
2
Gain-of-function mutations in KCNK3 cause a developmental d..:
Sörmann, Janina
;
Schewe, Marcus
;
Proks, Peter
...
Nature Genetics. 54 (2022) 10 - p. 1534-1543 , 2022
Link:
https://doi.org/10.1038/..
?
3
Syndromic neurodevelopmental disorder associated with de no..:
Burns, William
;
Bird, Lynne M.
;
Heron, Delphine
...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 2863-2872 , 2021
Link:
https://doi.org/10.1002/..
?
4
Proximal variants in CCND2 associated with microcephaly, sh..:
Pirozzi, Filomena
;
Lee, Benson
;
Horsley, Nicole
...
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2719-2738 , 2021
Link:
https://doi.org/10.1002/..
?
5
Correction: Diagnostic value of partial exome sequencing in..:
Gieldon, Laura
;
Mackenroth, Luisa
;
Kahlert, Anne-Karin
...
PLOS ONE. 15 (2020) 9 - p. e0239959 , 2020
Link:
https://doi.org/10.1371/..
?
6
Novel truncating PPM1D mutation in a patient with intellect..:
Porrmann, Joseph
;
Rump, Andreas
;
Hackmann, Karl
...
European Journal of Medical Genetics. 62 (2019) 1 - p. 70-72 , 2019
Link:
https://doi.org/10.1016/..
?
7
Targeted capture-based NGS is superior to multiplex PCR-bas..:
Zakrzewski, Falk
;
Gieldon, Laura
;
Rump, Andreas
...
BMC Cancer. 19 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
8
Diagnostic value of partial exome sequencing in development..:
Gieldon, Laura
;
Mackenroth, Luisa
;
Kahlert, Anne-Karin
...
PLOS ONE. 13 (2018) 8 - p. e0201041 , 2018
Link:
https://doi.org/10.1371/..
?
9
Novel PRPS1 gain‐of‐function mutation in a patient with con..:
Porrmann, Joseph
;
Betcheva‐Krajcir, Elitza
;
Di Donato, Nataliya
...
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2736-2742 , 2017
Link:
https://doi.org/10.1002/..
?
10
Novel peroxisome proliferator‐activated receptor gamma muta..:
Miehle, Konstanze
;
Porrmann, Joseph
;
Mitter, Diana
...
Clinical Endocrinology. 84 (2015) 1 - p. 141-148 , 2015
Link:
https://doi.org/10.1111/..
?
11
Broadening the phenotypic and molecular spectrum of FINCA s..:
Sczakiel, Henrike L
;
Zhao, Max
;
Wollert-Wulf, Brigitte
...
https://discovery.ucl.ac.uk/id/eprint/10170574/1/Maroofian_Broadening%20the%20phenotypic%20and%20molecular%20spectrum%20of%20FINCA%20syndrome_AOP.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
12
Gain-of-function mutations in KCNK3 cause a developmental d..:
Sörmann, Janina
;
Schewe, Marcus
;
Proks, Peter
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534757/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
13
Proximal variants in CCND2 associated with microcephaly, sh..:
Pirozzi, Filomena
;
Lee, Benson
;
Horsley, Nicole
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725575/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
14
Syndromic neurodevelopmental disorder associated with de no..:
Burns, William
;
Bird, Lynne, M
;
Heron, Delphine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62359. , 2021
Link:
https://hal.sorbonne-uni..
?
15
Syndromic neurodevelopmental disorder associated with de no..:
Burns, William
;
Bird, Lynne, M
;
Heron, Delphine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62359. , 2021
Link:
https://hal.sorbonne-uni..
1-15
