E-LIB Suche - Ergebnisse für: Gardeitchik, T

1

Unique presentation of cutis laxa with Leigh‐like syndrome ..:

Balasubramaniam, S. ; Riley, L. G. ; Bratkovic, D....
Journal of Inherited Metabolic Disease. 40 (2017) 5 - p. 745-747 , 2017

Link: https://doi.org/10.1007/..

2

Refining the phenotypical and mutational spectrum of Taybi‐..:

Putoux, A. ; Alqahtani, A. ; Pinson, L....
Clinical Genetics. 90 (2016) 6 - p. 550-555 , 2016

Link: https://doi.org/10.1111/..

3

Cutis Laxa:

, In: Brenner's Encyclopedia of Genetics,

Gardeitchik, T. ; Morava, E. - p. 254-257 , 2013

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

4

Clinical and diagnostic approach in unsolved CDG patients w..:

Mohamed, M. ; Guillard, M. ; Wortmann, S.B....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1812 (2011) 6 - p. 691-698 , 2011

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

5

Infant with MCA and severe cutis laxa due to a de novo dupl..:

Gardeitchik, T. ; de Leeuw, N. ; Nijtmans, L....
American Journal of Medical Genetics Part A. 158A (2011) 2 - p. 469-472 , 2011

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

6

Depressive behaviour in children diagnosed with a mitochond..:

Morava, E. ; Gardeitchik, T. ; Kozicz, T....
Mitochondrion. 10 (2010) 5 - p. 528-533 , 2010

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

7

Copy number variants from 4800 exomes contribute to ~7% of ..:

Pennings, M ; Meijer, R.P.P ; Gerrits, M...
https://cris.maastrichtuniversity.nl/en/publications/a4421e82-3822-42f8-b4e2-d79117fa3161. , 2023

Link: https://cris.maastrichtu..

8

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, D ; Zeitler, D ; Reijnders, M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-020-19572-5. , 2020

Link: https://gfzpublic.gfz-po..

9

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, C ; Neveling, K ; Zafeiropopoulou, D...
https://pure.eur.nl/en/publications/4ea4f045-1b3a-4bda-8423-78e47ffbcb62. , 2020

Link: https://pure.eur.nl/en/p..

10

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, C ; Neveling, K ; Zafeiropopoulou, D...
Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , SCEH , Paulussen , A , Stevens , SJC , Sikkel , E , Elting , MW , van Maarle , MC , Diderich , K , Corsten-Janssen , N , Lichtenbelt , KD , Lachmeijer , G , Vissers , LELM , Yntema , HG , Nelen , M , Feenstra , I & van Zelst-Stams , W A G 2020 , ' Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging ' , Prenatal Diagnosis , vol. 40 , no. 8 , pp. 972-983 . https://doi.org/10.1002/pd.5717. , 2020

Link: https://pure.eur.nl/en/p..

11

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, C ; Neveling, K ; Zafeiropopoulou, D...
Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , S C E H , Paulussen , A , Stevens , S J C , Sikkel , E , Elting , M W , van Maarle , M C , Diderich , K E M , Corsten-Janssen , N , Lichtenbelt , K D , Lachmeijer , G , Vissers , L E L M , Yntema , H G , Nelen , M , Feenstra , I & van Zelst-Stams , W A G 2020 , ' Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging ' , Prenatal Diagnosis , vol. 40 , no. 8 , pp. 972-983 . https://doi.org/10.1002/pd.5717. , 2020

Link: https://cris.maastrichtu..

12

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha ..:

Mohamed, M ; Gardeitchik, T ; Balasubramaniam, S...
https://discovery.ucl.ac.uk/id/eprint/10098414/1/Al-Shawi_jimd.12255.pdf. , 2020

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

13

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, D ; Zeitler, D.M ; Reijnders, M.R.F...
Lessel , D , Zeitler , D M , Reijnders , M R F , Kazantsev , A , Nia , F H , Bartholomaus , A , Martens , V , Bruckmann , A , Graus , V , McConkie-Rosell , A , McDonald , M , Lozic , B , Tan , E S , Gerkes , E , Johannsen , J , Denecke , J , Telegrafi , A , Zonneveld-Huijssoon , E , Lemmink , H H , Cham , B W M , Kovacevic , T , Ramsdell , L , Foss , K , Le Duc , D , Mitter , D , Syrbe , S , Merkenschlager , A , Sinnema , M , Panis , B , Lazier , J , Osmond , M , Hartley , T , Mortreux , J , Busa , T , Missirian , C , Prasun , P , Luttgen , S , Mannucci , I , Lessel , I , Schob , C , Kindler , S , Pappas , J , Rabin , R , Willemsen , M , Gardeitchik , T , Lohner , K , Rump , P , Dias , K R , Evans , C A , Andrews , P I & Kreienkamp , H-J 2020 , ' Germline AGO2 mutations impair RNA interference and human neurological development ' , Nature Communications , vol. 11 , no. 1 , 5797 . https://doi.org/10.1038/s41467-020-19572-5. , 2020

Link: https://cris.maastrichtu..

14

Further delineation of an entity caused by CREBBP and EP300..:

Menke, LA ; Gardeitchik, T ; Hammond, P...
doi:10.1002/ajmg.a.38626. , 2018

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

15

Discriminative features in three autosomal recessive cutis ..:

Kariminejad, A ; Afroozan, F ; Bozorgmehr, B...
Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E (2017). Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. International Journal of Molecular Sciences 18 (3) : 635. ScholarBank@NUS Repository. https://doi.org/10.3390/ijms18030635. , 2017

Link: https://scholarbank.nus...