E-LIB Suche - Ergebnisse für: Hamel, Ben C.J.

1

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confir..:

Dekker, Marieke C.J. ; Chengo, Rose ; Kumburu, Happiness H...
Tremor and Other Hyperkinetic Movements. 10 (2020) 0 - p. , 2020

Link: https://doi.org/10.5334/..

2

Ellis‐van Creveld syndrome in a patient from Tanzania:

Dekker, Marieke C. J. ; Sadiq, Adnan M. ; Jusabani, Mubashir A....
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2034-2038 , 2019

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

3

Camurati–Engelmann disease: a case report from sub-Saharan ..:

Mwasamwaja, Amos O ; Mkwizu, Elifuraha W ; Shao, Elichilia R...
Oxford Medical Case Reports. 2018 (2018) 7 - p. , 2018

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

4

Respiratory Failure due to Severe Obesity and Kyphoscoliosi..:

Shao, Elichilia R. ; Kiyegi, Lucas F. ; Mwasamwaja, Amos O...
Case Reports in Genetics. 2017 (2017) - p. 1-4 , 2017

Link: https://doi.org/10.1155/..

5

Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Targ..:

Topaloglu, A. Kemal ; Lomniczi, Alejandro ; Kretzschmar, Doris...
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 10 - p. E2067-E2075 , 2014

Link: https://doi.org/10.1210/..

6

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus..:

Mende, Rose H. ; Drake, David P. ; Olomi, Raimos M..
Case Reports in Genetics. 2012 (2012) - p. 1-3 , 2012

Link: https://doi.org/10.1155/..

7

Monosomy 9pter and trisomy 9q34.11qter in two sisters due t..:

Mundhofir, Farmaditya E.P. ; Smeets, Dominique ; Nillesen, Willy...
Gene. 511 (2012) 2 - p. 451-454 , 2012

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

8

Mowat-Wilson Syndrome: The First Clinical and Molecular Rep..:

Mundhofir, Farmaditya E. P. ; Yntema, Helger G. ; van der Burgt, Ineke...
Case Reports in Genetics. 2012 (2012) - p. 1-3 , 2012

Link: https://doi.org/10.1155/..

9

Further molecular and clinical delineation of the Wisconsin..:

Willemsen, Marjolein H. ; de Leeuw, Nicole ; Mercer, Catherine...
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 106-112 , 2010

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

10

Recurrent deletion of ZNF630 at Xp11.23 is not associated w..:

Lugtenberg, Dorien ; Zangrande‐Vieira, Luiz ; Kirchhoff, Maria...
American Journal of Medical Genetics Part A. 152A (2010) 3 - p. 638-645 , 2010

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

11

Fatigue Is a Frequent and Clinically Relevant Problem in Eh..:

Voermans, Nicol C. ; Knoop, Hans ; van de Kamp, Nicole...
Seminars in Arthritis and Rheumatism. 40 (2010) 3 - p. 267-274 , 2010

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

12

Neurologic Aspects of MECP2 Gene Duplication in Male Patien..:

Echenne, Bernard ; Roubertie, Agathe ; Lugtenberg, Dorien...
Pediatric Neurology. 41 (2009) 3 - p. 187-191 , 2009

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

13

Mutations involved in Aicardi-Goutières syndrome implicate ..:

Rice, Gillian I ; Bond, Jacquelyn ; Asipu, Aruna...
Nature Genetics. 41 (2009) 7 - p. 829-832 , 2009

Link: https://doi.org/10.1038/..

14

Xq13.2q21.1 duplication encompassing the ATRX gene in a man..:

Lugtenberg, Dorien ; de Brouwer, Arjan P.M. ; Oudakker, Astrid R....
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 760-766 , 2009

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

15

Neuromuscular involvement in various types of Ehlers–Danlos..:

Voermans, Nicol C. ; van Alfen, Nens ; Pillen, Sigrid...
Annals of Neurology. 65 (2009) 6 - p. 687-697 , 2009

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