E-LIB Suche - Ergebnisse für: Ferla, Matteo P

1

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J ; Schuller, Marion...
qt3qr8j49t. , 2023

2

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

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx. , 2023

Link: https://eprints.soton.ac..

3

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J ; Schuller, Marion...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926234/. , 2023

Link: http://www.ncbi.nlm.nih...

4

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

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620944/. , 2023

Link: http://www.ncbi.nlm.nih...

5

DogCatcher allows loop-friendly protein-protein ligation:

Keeble, Anthony H ; Yadav, Vikash K ; Ferla, Matteo P...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878318/. , 2022

Link: http://www.ncbi.nlm.nih...

6

Venus: Elucidating the Impact of Amino Acid Variants on Pro..:

Ferla, Matteo P ; Pagnamenta, Alistair T ; Koukouflis, Leonidas..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742853/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Clinico-radiological features, molecular spectrum, and iden..:

Morava, Eva ; Mirzadeh, Hanieh S ; Maqbool, Shazia...
80b5dd8c-2355-4842-bc5c-81ec5bccb092. , 2022

Link: https://doi.org/10.1002/..

8

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J ; Schuller, Marion...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258288/. , 2022

Link: http://www.ncbi.nlm.nih...

9

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, Alistair T ; Diaz-Gonzalez, Francisca ; Banos-Pinero, Benito...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554069/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, Alistair T ; Diaz-Gonzalez, Francisca ; Banos-Pinero, Benito...
Journal of Medical Genetics, 0022-2593, 2022, 59:10, s. 947-950. , 2022

Link: http://urn.kb.se/resolve..

11

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

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf. , 2022

Link: https://discovery.ucl.ac..

12

A human importin-β-related disorder: Syndromic thoracic aor..:

Van Gucht, Ilse ; Meester, Josephina A.N ; Bento, Jotte Rodrigues...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206384/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Expanding the phenotypic spectrum of BCS1L‐related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607453/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Expanding the phenotypic spectrum of BCS1L-related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
urn:issn:2328-9503. , 2021

Link: https://hdl.handle.net/1..

15

Pervasive cooperative mutational effects on multiple cataly..:

Acevedo-Rocha, Carlos G ; Li, Aitao ; D'Amore, Lorenzo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955134/. , 2021

Link: http://www.ncbi.nlm.nih...