E-LIB Suche - Ergebnisse für: Tsai, Anne Chun-hui - Sprache DE

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1

Population genetics analysis of SLC3A1 and SLC7A9 revealed ..:

Wu, Chen-Han Wilfred ; Badreddine, Jad ; Chang, Joshua...
Urolithiasis. 51 (2023) 1 - p. , 2023

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

2

Compound heterozygote variants: c.848A > G; p.Glu283Gly and..:

Tsai, Anne Chun-Hui ; Lin, Hsin-Ti ; Chou, Maxwell...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100859 , 2022

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

3

Novel compound heterozygote variants: c.4193_4206delinsG (p..:

Lin, Hsin-Ti ; Enchautegui-Colon, Yazmin ; Huang, Yu-Ren...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100942 , 2022

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

4

A novel, germline, deactivating CBL variant p.L493F alters ..:

Norris, Gregory A. ; Tsai, Anne Chun-hui ; Schneider, Kami Wolfe...
Cancer Genetics. 254-255 (2021) - p. 18-24 , 2021

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

5

Systematic evidence-based review: outcomes from exome and g..:

Malinowski, Jennifer ; Miller, David T. ; Demmer, Laurie...
Genetics in Medicine. 22 (2020) 6 - p. 986-1004 , 2020

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

6

Interstitial Duplication in Chromosome 14q: A Rare Constitu..:

Narayanan, Divya ; Hennerich, Deborrah D. ; Haag, Mary M....
Cancer Genetics. 214-215 (2017) - p. 48 , 2017

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

7

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:

Lalani, Seema R. ; Zhang, Jing ; Schaaf, Christian P....
The American Journal of Human Genetics. 95 (2014) 5 - p. 579-583 , 2014

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

8

Mutations in the chromatin modifier gene KANSL1 cause the 1..:

Koolen, David A ; Kramer, Jamie M ; Neveling, Kornelia...
Nature Genetics. 44 (2012) 6 - p. 639-641 , 2012

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

9

Contributors:

, In: Berman's Pediatric Decision Making,

Abzug, Mark J. ; Albano, Edythe ; Amin, Nimisha... - p. vii-xiv , 2011

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

10

Birth defects and dysmorphic features:

, In: Berman's Pediatric Decision Making,

Tsai, Anne Chun-Hui - p. 674-679 , 2011

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

11

CHROMOSOMAL DISORDERS AND FRAGILE X SYNDROME:

, In: Developmental-Behavioral Pediatrics,

Tsai, Anne Chun-Hui ; Pickler, Laura ; Tartaglia, Nicole. - p. 224-234 , 2009

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

12

Intragenic microdeletion of RUNX2 is a novel mechanism for ..:

Lee, Ming Ta Michael ; Tsai, Anne Chun-Hui ; Chou, Ching-Heng...
Genomic Medicine. 2 (2008) 1-2 - p. 45-49 , 2008

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

13

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and s..:

Tsai, Anne Chun-Hui ; Fine, Catherine A. ; Yang, Michael...
American Journal of Medical Genetics Part A. 140A (2006) 8 - p. 923-930 , 2006

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

14

Chinese hamster ovary cell-derived recombinant human acid α..:

Kishnani, Priya Sunil ; Nicolino, Marc ; Voit, Thomas...
The Journal of Pediatrics. 149 (2006) 1 - p. 89-97 , 2006

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

15

Characterization of pre- and post-treatment pathology after..:

Thurberg, Beth L ; Lynch Maloney, Colleen ; Vaccaro, Charles...
Laboratory Investigation. 86 (2006) 12 - p. 1208-1220 , 2006

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

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