Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Sloan-Heggen, Christina
21  Ergebnisse:
Personensuche X
?
1

ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTY..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107489 , 2023
Link: https://doi.org/10.1016/..
 
?
2

P036: Atypically mild ethylmalonic encephalopathy expands p..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Genetics in Medicine Open.  1 (2023)  1 - p. 100046 , 2023
Link: https://doi.org/10.1016/..
 
?
3

eP249: Practical implementation of inpatient rapid comprehe..:

Sloan-Heggen, Christina ; Pritchard, Amanda Barone ; Barks, John...
Genetics in Medicine.  24 (2022)  3 - p. S158 , 2022
Link: https://doi.org/10.1016/..
 
?
4

eP290: A mosaic Angelman syndrome case with language apraxi..:

Yang, Chen ; Sloan-Heggen, Christina ; Ducharme, Nicole...
Genetics in Medicine.  24 (2022)  3 - p. S183-S184 , 2022
Link: https://doi.org/10.1016/..
 
?
5

Trainee perspectives of COVID-19 impact on medical genetics..:

Pritchard, Amanda Barone ; Sloan-Heggen, Christina ; Keegan, Catherine E..
Genetics in Medicine.  23 (2021)  5 - p. 956-962 , 2021
Link: https://doi.org/10.1038/..
 
?
6

Genomic Landscape and Mutational Signatures of Deafness-Ass..:

Azaiez, Hela ; Booth, Kevin T. ; Ephraim, Sean S....
The American Journal of Human Genetics.  103 (2018)  4 - p. 484-497 , 2018
Link: https://doi.org/10.1016/..
 
?
7

Genetic variants in the peripheral auditory system signific..:

Shearer, A. Eliot ; Eppsteiner, Robert W. ; Frees, Kathy...
Hearing Research.  348 (2017)  - p. 138-142 , 2017
Link: https://doi.org/10.1016/..
 
?
8

Comprehensive genetic testing in the clinical evaluation of..:

Sloan-Heggen, Christina M. ; Bierer, Amanda O. ; Shearer, A. Eliot...
Human Genetics.  135 (2016)  4 - p. 441-450 , 2016
Link: https://doi.org/10.1007/..
 
?
9

Detection and Confirmation of Deafness-Causing Copy Number ..:

Moteki, Hideaki ; Azaiez, Hela ; Sloan-Heggen, Christina M....
Annals of Otology, Rhinology & Laryngology.  125 (2016)  11 - p. 918-923 , 2016
Link: https://doi.org/10.1177/..
 
?
10

Heterogeneity of Hereditary Hearing Loss in Iran: a Compreh..:

Beheshtian, Maryam ; Babanejad, Mojgan ; Azaiez, Hela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541368/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
?
11

Is it Usher Syndrome? Collaborative Diagnosis and Molecular..:

Stiff, Heather A ; Sloan-Heggen, Christina M ; Ko, Ashley...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489297/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
?
12

Genomic Landscape and Mutational Signatures of Deafness-Ass..:

Azaiez, Hela ; Booth, Kevin T ; Ephraim, Sean S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174355/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
?
13

Genetic Variants in the Peripheral Auditory System Signific..:

Shearer, A Eliot ; Eppsteiner, Robert W ; Frees, Kathy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527292/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
?
14

Detection and confirmation of deafness-causing copy number ..:

Moteki, Hideaki ; Azaiez, Hela ; Sloan-Heggen, Christina M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537730/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
?
15

A novel mutation in ACTG1 can cause either isolated hearing..:

Kemerley, Andrew ; Sloan-Heggen, Christina M ; Pfeifer, Wanda L..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722223/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
1-15