E-LIB Suche - Ergebnisse für: Immken, L.

1

Expansion and further delineation of the SETD5 phenotype le..:

Powis, Z. ; Farwell Hagman, K.D. ; Mroske, C....
Clinical Genetics. 93 (2018) 4 - p. 752-761 , 2018

2

Maternal side effects of prenatal dexamethasone therapy for..:

Pang, S ; Clark, A T ; Freeman, L C...
The Journal of Clinical Endocrinology & Metabolism. 75 (1992) 1 - p. 249-253 , 1992

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

3

Syndrome of multiple pterygia, camptodactyly, facial anomal..:

Chen, H. ; Immken, L. ; Lachman, R....
American Journal of Medical Genetics. 17 (1984) 4 - p. 809-826 , 1984

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

4

The Pena‐Shokeir syndrome: Report of five cases and further..:

Chen, H. ; Blumberg, B. ; Immken, L....
American Journal of Medical Genetics. 16 (1983) 2 - p. 213-224 , 1983

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

5

Gas Introduction by Permeation into Long Fluorinated Ethyle..:

von Vietinghoff, Niclas ; Immken, Anne ; Seidensticker, Thomas...
Chemical Engineering & Technology. 46 (2023) 5 - p. 1047-1051 , 2023

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

6

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2750-2759 , 2022

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

7

Heterozygous variants in PRPF8 are associated with neurodev..:

O'Grady, Lauren ; Sweetser, David ; Gold, Nina...
Molecular Genetics and Metabolism. 132 (2021) - p. S109-S110 , 2021

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

8

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K. ; Nakayama, Tojo ; Lai, Jenny...
Genetics in Medicine. 23 (2021) 6 - p. 1028-1040 , 2021

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

9

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique ..:

Emrick, Lisa T. ; Rosenfeld, Jill A. ; Lalani, Seema R....
Genetics in Medicine. 21 (2019) 7 - p. 1652-1656 , 2019

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

10

Diagnostic exome sequencing identifies GLI2 haploinsufficie..:

Sajan, Samin A. ; Powis, Zöe ; Helbig, Katherine L....
Clinical Case Reports. 6 (2018) 7 - p. 1208-1213 , 2018

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

11

Phenotypic expansion in DDX3X – a common cause of intellect..:

Wang, Xia ; Posey, Jennifer E. ; Rosenfeld, Jill A....
Annals of Clinical and Translational Neurology. 5 (2018) 10 - p. 1277-1285 , 2018

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

12

MED resulting from recessively inherited mutations in the g..:

Balasubramanian, Karthika ; Li, Bing ; Krakow, Deborah...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2415-2421 , 2017

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

13

Whole exome sequencing reveals de novo pathogenic variants ..:

Millan, Francisca ; Cho, Megan T. ; Retterer, Kyle...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1791-1798 , 2016

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

14

Clinical Comparison of Overlapping Deletions of 19p13.3:

Risheg, Hiba ; Pasion, Romela ; Sacharow, Stephanie...
American Journal of Medical Genetics Part A. 161 (2013) 5 - p. 1110-1116 , 2013

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

15

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are ..:

Celestino-Soper, Patrícia BS ; Skinner, Cindy ; Schroer, Richard...
Molecular Cytogenetics. 5 (2012) 1 - p. , 2012

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