E-LIB Suche - Ergebnisse für: Alhaddad, B.

1

De novo variants in neurodevelopmental disorders-experience..:

Brunet, T ; Jech, R ; Brugger, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.13946. , 2021

2

Identification of disease-causing variants by comprehensive..:

Braunisch, M.C ; Riedhammer, K.M ; Herr, P.M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-020-00719-3. , 2021

Link: https://push-zb.helmholt..

3

De novo stop-loss variants in CLDN11 cause hypomyelinating ..:

Riedhammer, K.M ; Stockler, S ; Ploski, R...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awaa410. , 2021

Link: https://push-zb.helmholt..

4

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, E. M ; Bakhtiari, S ; Marsh, A. P. L...
https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5. , 2021

Link: https://doi.org/10.1016/..

5

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, EM ; Bakhtiari, S ; Marsh, APL...
https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf. , 2021

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

6

Defective phosphatidylethanolamine biosynthesis leads to a ..:

Kaiyrzhanov, R ; Wortmann, S.B ; Reid, T...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awaa442. , 2021

Link: https://push-zb.helmholt..

7

Defective phosphatidylethanolamine biosynthesis leads to a ..:

Kaiyrzhanov, R ; Wortmann, S ; Reid, T...
https://openaccess.sgul.ac.uk/id/eprint/112860/6/awaa442.pdf. , 2021

Link: https://openaccess.sgul...

8

Defective phosphatidylethanolamine biosynthesis leads to a ..:

Kaiyrzhanov, R ; Wortmann, S ; Reid, T...
https://discovery.ucl.ac.uk/id/eprint/10120488/1/awaa442.pdf. , 2021

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

9

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, D ; Smith, D.E.C ; Crushell, E...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-0904-4. , 2020

Link: https://push-zb.helmholt..

10

New insights into the clinical and molecular spectrum of th..:

Begemann, A ; Sticht, H ; Begtrup, A...
Begemann , A , Sticht , H , Begtrup , A , Vitobello , A , Faivre , L , Banka , S , Alhaddad , B , Asadollahi , R , Becker , J , Bierhals , T , Brown , KE , Bruel , AL , Brunet , T & Rauch , A 2020 , ' New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01011-x. , 2020

Link: https://research.manches..

11

LINS1-associated neurodevelopmental disorder family with no..:

Neuhofer, C.M ; Catarino, C.B ; Schmidt, H...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXG.0000000000000500. , 2020

Link: https://push-zb.helmholt..

12

Monogenic variants in dystonia: an exome-wide sequencing st..:

Zech M ; Jech R ; Boesch S...
14744465. , 2020

Link: https://doi.org/10.1016/..

13

Monogenic variants in dystonia: An exome-wide sequencing st..:

Zech, M ; Jech, R ; Boesch, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/S1474-4422(20)30312-4. , 2020

Link: https://push-zb.helmholt..

14

Bi-allelic variants in RALGAPA1 cause profound neurodevelop..:

Wagner, M ; Skorobogatko, Y ; Pode-Shakked, B...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2020.01.002. , 2020

Link: https://push-zb.helmholt..

15

KCNC1-related disorders: New de novo variants expand the ph..:

Park, J ; Koko, M ; Hedrich, U.B.S...
info:eu-repo/semantics/altIdentifier/doi/10.1002/acn3.50799. , 2019

Link: https://push-zb.helmholt..