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Francescatto, Ludmila
27  results:
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1

Co-existing genetic disorders in Pompe disease: Exome analy..:

Cocanougher, Benjamin ; Francescatto, Ludmila ; Huggins, Erin..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108214 , 2024
Link: https://doi.org/10.1016/..
 
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2

P748: Duplication of 12q24.11-q24.31 in a patient with Noon..:

Francescatto, Ludmila ; Cocanougher, Benjamin ; Deak, Kristen...
Genetics in Medicine Open.  2 (2024)  - p. 101652 , 2024
Link: https://doi.org/10.1016/..
 
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3

The severity of MUSK pathogenic variants is predicted by th..:

Cocanougher, Benjamin T. ; Liu, Samuel W. ; Francescatto, Ludmila...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100288 , 2024
Link: https://doi.org/10.1016/..
 
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4

Specific CaMKIIs mediate convergent extension cell movement..:

McLeod, Jamie J. ; Rothschild, Sarah C. ; Francescatto, Ludmila..
Developmental Dynamics.  253 (2023)  4 - p. 390-403 , 2023
Link: https://doi.org/10.1002/..
 
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5

RNA sequencing of isolated cell populations expressing huma..:

Bundy, Joseph L. ; Anderson, Blair R. ; Francescatto, Ludmila...
PLOS ONE.  14 (2019)  6 - p. e0217042 , 2019
Link: https://doi.org/10.1371/..
 
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6

Immunostaining Phospho-epitopes in Ciliated Organs of Whole.. 

JoVE : Chemistry
Rothschild, Sarah C. ; Francescatto, Ludmila ; Tombes, Robert M. , 2016
Link: https://www.jove.com/t/5..
 
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7

Newborn screening and the era of medical genomics:

Francescatto, Ludmila ; Katsanis, Nicholas
Seminars in Perinatology.  39 (2015)  8 - p. 617-622 , 2015
Link: https://doi.org/10.1053/..
 
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8

Mutations in RAD21 Disrupt Regulation of APOB in Patients W..:

Bonora, Elena ; Bianco, Francesca ; Cordeddu, Lina...
Gastroenterology.  148 (2015)  4 - p. 771-782.e11 , 2015
Link: https://doi.org/10.1053/..
 
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9

Missense mutations inTENM4, a regulator of axon guidance an..:

Hor, Hyun ; Francescatto, Ludmila ; Bartesaghi, Luca...
Human Molecular Genetics.  24 (2015)  20 - p. 5677-5686 , 2015
Link: https://doi.org/10.1093/..
 
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10

Exome Sequence Analysis Suggests that Genetic Burden Contri..:

Gonzaga-Jauregui, Claudia ; Harel, Tamar ; Gambin, Tomasz...
Cell Reports.  12 (2015)  7 - p. 1169-1183 , 2015
Link: https://doi.org/10.1016/..
 
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11

Disruptive CHD8 Mutations Define a Subtype of Autism Early ..:

Bernier, Raphael ; Golzio, Christelle ; Xiong, Bo...
Cell.  158 (2014)  2 - p. 263-276 , 2014
Link: https://doi.org/10.1016/..
 
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12

Functionally compromisedCHD7alleles in patients with isolat..:

Balasubramanian, Ravikumar ; Choi, Jin-Ho ; Francescatto, Ludmila...
Proceedings of the National Academy of Sciences.  111 (2014)  50 - p. 17953-17958 , 2014
Link: https://doi.org/10.1073/..
 
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13

Functionally compromised CHD7 alleles in patients withisola..:

Balasubramanian, Ravikumar ; Choi, Jin-Ho ; Francescatto, Ludmila...
Proceedings of the National Academy of Sciences of the United States of America.  111 (2014)  50 - p. 17953-17958 , 2014
Link: https://www.jstor.org/st..
 
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14

Su2019 Functional Characterization of a Novel RAD21 Mutatio..:

Bonora, Elena ; Bianco, Francesca ; Bamshad, Mike...
Gastroenterology.  146 (2014)  5 - p. S-524 , 2014
Link: https://doi.org/10.1016/..
 
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15

CaMK-II activation is essential for zebrafish inner ear dev..:

Rothschild, Sarah C. ; Lahvic, Jamie ; Francescatto, Ludmila...
Developmental Biology.  381 (2013)  1 - p. 179-188 , 2013
Link: https://doi.org/10.1016/..
 
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