E-LIB Suche - Ergebnisse für: Mroczkowski, Henry

1

The impact of clinical genome sequencing in a global popula..:

Thorpe, Erin ; Williams, Taylor ; Shaw, Chad...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1271-1281 , 2024

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

2

Genome sequencing detects a balanced pericentric inversion ..:

Chandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

3

Pervasive inflammatory activation in patients with deficien..:

Vallejo, Abbe N ; Mroczkowski, Henry J ; Michel, Joshua J...
Clinical & Translational Immunology. 10 (2021) 6 - p. , 2021

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

4

A novel variant in the dystonin gene causing hereditary sen..:

Sakaria, Rishika P. ; Fonville, Megan P. ; Peravali, Silpa...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1245-1250 , 2021

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

5

269: Chondrodysplasia punctata associated with maternal hyp..:

Miller, Stephen F. ; Mostafavi, Roya ; Mroczkowski, Henry...
American Journal of Obstetrics and Gynecology. 218 (2018) 1 - p. S171-S172 , 2018

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

6

Interstitial 10p11.23–p12.1 microdeletions associated with ..:

Mroczkowski, Henry J. ; Arnold, Georgianne ; Schneck, Francis X...
American Journal of Medical Genetics Part A. 164 (2014) 10 - p. 2623-2626 , 2014

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

7

P059: Late onset lipid storage myopathy caused by synergist..:

Fu, Xiaowei ; Mroczkowski, Henry Joel
Genetics in Medicine Open. 2 (2024) - p. 100936 , 2024

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

8

eP145: Severe Pierre Robin sequence and hydrocephalus in in..:

Holtrop, Shannon ; Mroczkowski, Henry Joel
Genetics in Medicine. 24 (2022) 3 - p. S89-S90 , 2022

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

9

A case series of challenging molecular diagnoses identified..:

Schlachetzki, Zinayida ; Chandrasekhar, Anjana ; Clause, Amanda...
Molecular Genetics and Metabolism. 132 (2021) - p. S182 , 2021

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

10

Pervasive inflammatory activation in patients with deficien..:

Vallejo, Abbe N ; Mroczkowski, Henry J ; Michel, Joshua J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236555/. , 2021

Link: http://www.ncbi.nlm.nih...

11

Contribution of Family History in Co-occurring Down Syndrom..:

Buterbaugh, Allison ; Mroczkowski, Henry J ; Shankar, Suma P.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013

Link: http://www.ncbi.nlm.nih...

12

Pervasive inflammatory activation in patients with deficien..:

Abbe N Vallejo ; Henry J Mroczkowski ; Joshua J Michel...
https://doi.org/10.1002/cti2.1304. , 2021

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

13

Modified neoadjuvant short-course radiation therapy in uT3 ..:

Kube, Rainer ; Ptok, Henry ; Jacob, David...
International Journal of Colorectal Disease. 25 (2009) 1 - p. 109-117 , 2009

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

14

Photon noise from chaotic and coherent millimeter-wave sour..:

Flanigan, Daniel ; McCarrick, Heather ; Jones, Glenn...
http://arxiv.org/abs/1510.06609. , 2015

Link: http://arxiv.org/abs/151..

15

MAKO: a pathfinder instrument for on-sky demonstration of l..:

Swenson, Loren J ; Day, Peter K ; Dowell, Charles D...
https://doi.org/10.1117/12.926223. , 2012

Link: https://doi.org/10.1117/..