E-LIB Suche - Ergebnisse für: Martinez, Ariel F

1

Machine Learning Prediction of ADHD Severity: Association a..:

Cervantes-Henríquez, Martha L. ; Acosta-López, Johan E. ; Martinez, Ariel F....
Journal of Attention Disorders. 26 (2021) 4 - p. 587-605 , 2021

Link: https://doi.org/10.1177/..

2

Correction: The CHD4-related syndrome: a comprehensive inve..:

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina...
Genetics in Medicine. 22 (2020) 3 - p. 669 , 2020

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

3

Biallelic variants in KYNU cause a multisystemic syndrome w..:

Ehmke, Nadja ; Cusmano-Ozog, Kristina ; Koenig, Rainer...
Bone. 133 (2020) - p. 115219 , 2020

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

4

Mutations in sphingolipid metabolism genes are associated w..:

Henriquez-Henriquez, Marcela ; Acosta, Maria T. ; Martinez, Ariel F....
Translational Psychiatry. 10 (2020) 1 - p. , 2020

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

5

Identification of a novel PCNT founder pathogenic variant i..:

Weiss, Karin ; Ekhilevitch, Nina ; Cohen, Lior...
European Journal of Medical Genetics. 63 (2020) 2 - p. 103643 , 2020

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

6

Generation of human induced pluripotent stem cell line (NID..:

Mui, Byron W.H. ; Arora, Deepika ; Mallon, Barbara S....
Stem Cell Research. 46 (2020) - p. 101823 , 2020

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

7

The CHD4-related syndrome: a comprehensive investigation of..:

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina...
Genetics in Medicine. 22 (2020) 2 - p. 389-397 , 2020

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

8

Cohesin complex-associated holoprosencephaly:

Muenke, Maximilian ; Lipinski, Robert J ; Wendt, Kerstin S...
Brain. 142 (2019) 9 - p. 2631-2643 , 2019

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

9

Novel heterozygous variants in KMT2D associated with holopr..:

Tekendo‐Ngongang, Cedrik ; Kruszka, Paul ; Martinez, Ariel F..
Clinical Genetics. 96 (2019) 3 - p. 266-270 , 2019

Link: https://doi.org/10.1111/..

10

Low-level parental mosaicism affects the recurrence risk of..:

Hu, Ping ; Martinez, Ariel F. ; Kruszka, Paul...
Genetics in Medicine. 21 (2019) 4 - p. 1015-1020 , 2019

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

11

ADGRL3 (LPHN3) variants predict substance use disorder:

Arcos-Burgos, Mauricio ; Vélez, Jorge I. ; Martinez, Ariel F....
Translational Psychiatry. 9 (2019) 1 - p. , 2019

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

12

Extracephalic manifestations of nonchromosomal, nonsyndromi..:

Martinez, Ariel F. ; Kruszka, Paul S. ; Muenke, Maximilian
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 2 - p. 246-257 , 2018

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

13

Clinical and Demographic Evaluation of a Holoprosencephaly ..:

Abe, Yu ; Kruszka, Paul ; Martinez, Ariel F....
The Anatomical Record. 301 (2018) 6 - p. 973-986 , 2018

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

14

Cytogenetics and holoprosencephaly: A chromosomal microarra..:

Hu, Tommy ; Kruszka, Paul ; Martinez, Ariel F....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 2 - p. 175-186 , 2018

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

15

Molecular testing in holoprosencephaly:

Kruszka, Paul ; Martinez, Ariel F. ; Muenke, Maximilian
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 2 - p. 187-193 , 2018

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