E-LIB Suche - Ergebnisse für: Dykas, Daniel

1

P662: Updates on phenotypic spectrum and genotype-phenotype..:

Ma, Deqiong ; Peng, Gang ; Dykas, Daniel..
Genetics in Medicine Open. 2 (2024) - p. 101567 , 2024

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

2

P602: Genetic modifiers as a basis for phenotypic variabili..:

Abdelhamed, Zakia ; Dykas, Daniel ; DiAdamo, Autumn...
Genetics in Medicine Open. 2 (2024) - p. 101508 , 2024

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

3

Somatic Variants Acquired Later in Life Associated with Tho..:

Waldron, Christina ; Zafar, Mohammad A. ; Ma, Deqiong...
Genes. 15 (2024) 7 - p. 883 , 2024

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

4

P352: The importance of genetics consultation prior to test..:

Xicola, Rosa Munoz ; Bistline, Emily ; Galloway, Maya...
Genetics in Medicine Open. 2 (2024) - p. 101246 , 2024

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

5

Advancing diagnosis and management of liver disease in adul..:

Zheng, Melanie ; Hakim, Aaron ; Konkwo, Chigoziri...
eBioMedicine. 95 (2023) - p. 104747 , 2023

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

6

P503: Historical prospective study of the link between JAK2..:

Ma, Deqiong ; Popa, Andreea ; Dykas, Daniel...
Genetics in Medicine Open. 1 (2023) 1 - p. 100550 , 2023

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

7

Detecting regions of homozygosity improves the diagnosis of..:

Wen, Jiadi ; Chai, Hongyan ; Grommisch, Brittany...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1728-1738 , 2022

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

8

Clinical utility of genomic analysis in adults with idiopat..:

Hakim, Aaron ; Zhang, Xuchen ; DeLisle, Angela...
Journal of Hepatology. 70 (2019) 6 - p. 1214-1221 , 2019

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

9

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microa..:

Gulati, Ashima ; Bale, Allen E. ; Dykas, Daniel J....
American Journal of Kidney Diseases. 72 (2018) 6 - p. 895-899 , 2018

Link: https://doi.org/10.1053/..

10

Whole-exome sequencing in evaluation of patients with venou..:

Lee, Eun-Ju ; Dykas, Daniel J. ; Leavitt, Andrew D....
Blood Advances. 1 (2017) 16 - p. 1224-1237 , 2017

Link: https://doi.org/10.1182/..

11

Variant in the glucokinase regulatory protein ( GCKR ) gene..:

Santoro, Nicola ; Zhang, Clarence K. ; Zhao, Hongyu...
Hepatology. 55 (2012) 3 - p. 781-789 , 2012

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

12

A common variant in the patatin-like phospholipase 3 gene (..:

Santoro, Nicola ; Kursawe, Romy ; D'Adamo, Ebe...
Hepatology. 52 (2010) 4 - p. 1281-1290 , 2010

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

13

A Multiplex Assay for the Detection and Mapping of Complex ..:

Bale, Allen E ; McGrath, James M ; Dykas, Daniel J...
Clinical Chemistry. 52 (2006) 10 - p. 1864-1870 , 2006

Link: https://doi.org/10.1373/..

14

Clinical testing for the nevoid basal cell carcinoma syndro..:

Klein, Roger D. ; Dykas, Daniel J. ; Bale, Allen E.
Genetics in Medicine. 7 (2005) 9 - p. 611-619 , 2005

Link: https://doi.org/10.1097/..

15

Whole-exome sequencing in evaluation of patients with venou..:

Lee, Eun-Ju ; Dykas, Daniel J ; Leavitt, Andrew D...
Publisher's version. , 2017

Link: http://hdl.handle.net/10..