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Lachgar-Ruiz, María
21  results:
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1

Insights into the pathophysiology of DFNA44 hearing loss as..:

Lachgar-Ruiz, María ; Morín, Matías ; Martelletti, Elisa...
Disease Models & Mechanisms.  16 (2023)  8 - p. , 2023
Link: https://doi.org/10.1242/..
 
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2

Mutations inMINAR2encoding membrane integral NOTCH2-associa..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Proceedings of the National Academy of Sciences.  119 (2022)  26 - p. , 2022
Link: https://doi.org/10.1073/..
 
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3

Insights into the pathophysiology of DFNA44 hearing loss as..:

Lachgar-Ruiz, Marıá ; Morın, Matıás ; Martelletti, Elisa...
Lachgar-Ruiz , M , Morın , M , Martelletti , E , Ingham , N J , Preite , L , Lewis , M A , de Castro , L S S , Steel , K P & Moreno-Pelayo , M Á 2023 , ' Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants ' , Disease models & mechanisms , vol. 16 , no. 8 , dmm049757 . https://doi.org/10.1242/dmm.049757.  , 2023
Link: https://kclpure.kcl.ac.u..
 
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4

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://kclpure.kcl.ac.u..
 
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5

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://nectar.northampton.ac.uk/16974/1/Bademci_etal_PNAS_2022_Mutations_in_MINAR2_encoding_membrane_integral_NOTCH2_associated_receptor_2_cause_deafness_in_humans_and_mice.pdf.  , 2022
Link: http://nectar.northampto..
 
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6

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://kclpure.kcl.ac.u..
 
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7

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Baylan , M Y , Ingham , N , Chen , J , Sineni , C , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Chioza , B , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://pure.northampton..
 
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8

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245706/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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9

Human Cortical Organoids Expose a Differential Function of ..:

López-Tobón, Alejandro ; Villa, Carlo Emanuele ; Cheroni, Cristina...
https://doi.org/10.1016/j.stemcr.2019.09.005.  , 2019
Link: https://hdl.handle.net/2..
 
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10

Insights into the pathophysiology of DFNA44 hearing loss as..:

María Lachgar-Ruiz ; Matías Morín ; Elisa Martelletti...
http://dmm.biologists.org/content/16/8/dmm049757.  , 2023
Link: https://doi.org/10.1242/..
 
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11

Search for new genes, molecular mechanisms and diagnostic t..:

Lachgar Ruiz, María
https://hdl.handle.net/20.500.14352/87813.  , 2023
Link: https://hdl.handle.net/2..
 
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12

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic P..:

Lachgar, María ; Morín, Matías ; Villamar, Manuela..
Genes.  12 (2021)  3 - p. 411 , 2021
Link: https://doi.org/10.3390/..
 
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13

Insights into the pathophysiology of DFNA10 hearing loss as..:

Morín, Matias ; Borreguero, Lucía ; Booth, Kevin T...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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14

Human Cortical Organoids Expose a Differential Function of ..:

López-Tobón, Alejandro ; Villa, Carlo Emanuele ; Cheroni, Cristina...
Stem Cell Reports.  13 (2019)  5 - p. 847-861 , 2019
Link: https://doi.org/10.1016/..
 
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15

Neuronal and Glial Differentiation of Human Neural Stem Cel..:

Coronel, Raquel ; Lachgar, María ; Bernabeu-Zornoza, Adela...
Molecular Neurobiology.  56 (2018)  2 - p. 1248-1261 , 2018
Link: https://doi.org/10.1007/..
 
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