E-LIB Suche - Ergebnisse für: Shoukier, Moneef

1

Prenatal Diagnosis of Fryns Syndrome through Identification..:

Marchetto, Aruna ; Leidescher, Susanne ; van Hoi, Theresia...
Life. 14 (2024) 5 - p. 628 , 2024

Link: https://doi.org/10.3390/..

2

Dysregulation of FLVCR1a-dependent mitochondrial calcium ha..:

Bertino, Francesca ; Mukherjee, Dibyanti ; Bonora, Massimo...
Cell Reports Medicine. 5 (2024) 7 - p. 101647 , 2024

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

3

LMNA Mutation in a Family with a Strong History of Sudden C..:

Keil, Laura ; Berisha, Filip ; Knappe, Dorit...
Genes. 13 (2022) 2 - p. 169 , 2022

Link: https://doi.org/10.3390/..

4

Atypical Parkinsonism with Pathological Dopamine Transporte..:

Lange, Lara M. ; Schell, Nathalie ; Tunc, Sinem...
Movement Disorders Clinical Practice. 9 (2022) 8 - p. 1116-1119 , 2022

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

5

Systematic Analysis of Brain MRI Findings in Adaptor Protei..:

Ebrahimi-Fakhari, Darius ; Alecu, Julian E. ; Ziegler, Marvin...
Neurology. 97 (2021) 19 - p. , 2021

Link: https://doi.org/10.1212/..

6

Generalized Arterial Calcification of Infancy Type 1 (GACI1..:

Bulfamante, Gaetano Pietro ; Carpenito, Laura ; Bragantini, Emma...
Diagnostics. 11 (2021) 6 - p. 1034 , 2021

Link: https://doi.org/10.3390/..

7

Missense mutations in CASK, coding for the calcium‐/calmodu..:

Pan, Yingzhou Edward ; Tibbe, Debora ; Harms, Frederike Leonie...
Journal of Neurochemistry. 157 (2020) 4 - p. 1331-1350 , 2020

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

8

Germline deletion of CIN85 in humans with X chromosome–link..:

Keller, Baerbel ; Shoukier, Moneef ; Schulz, Kathrin...
Journal of Experimental Medicine. 215 (2018) 5 - p. 1327-1336 , 2018

Link: https://doi.org/10.1084/..

9

BCL11B mutations in patients affected by a neurodevelopment..:

Lessel, Davor ; Gehbauer, Christina ; Bramswig, Nuria C...
Brain. 141 (2018) 8 - p. 2299-2311 , 2018

Link: https://doi.org/10.1093/..

10

A novel pathogenic MYH3 mutation in a child with Sheldon–Ha..:

Scala, Marcello ; Accogli, Andrea ; De Grandis, Elisa...
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 663-667 , 2018

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

11

A 3p interstitial deletion in two monozygotic twin brothers..:

Maria Christina Schwaibold, Eva ; Zoll, Barbara ; Burfeind, Peter...
American Journal of Medical Genetics Part A. 161 (2013) 10 - p. 2634-2640 , 2013

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

12

Hereditary papillary renal cell carcinoma primarily diagnos..:

Behnes, Carl Ludwig ; Schlegel, Christina ; Shoukier, Moneef...
BMC Urology. 13 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

13

Normal intelligence and premature ovarian failure in an adu..:

Bartels, Iris ; Pütz, Irene ; Reintjes, Nadine..
European Journal of Medical Genetics. 56 (2013) 8 - p. 458-462 , 2013

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

14

Occurrence of acute lymphoblastic leukemia and juvenile mye..:

Pauli, Silke ; Steinemann, Doris ; Dittmann, Kai...
American Journal of Medical Genetics Part A. 158A (2012) 3 - p. 652-658 , 2012

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

15

A de novo interstitial deletion of 2p23.3–24.3 in a boy pre..:

Shoukier, Moneef ; Schröder, Julia ; Zoll, Barbara...
American Journal of Medical Genetics Part A. 158A (2012) 2 - p. 429-433 , 2012

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