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Pontes Jacinto, Joana Goncalves
27  results:
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1

Congenital syndromic Chiari-like malformation (CSCM) in Hol..:

Jacinto, Joana Goncalves Pontes ; Letko, Anna ; Häfliger, Irene Monika..
Acta Veterinaria Scandinavica.  66 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

A large deletion encompassing exon 2 of the ectodysplasin A..:

Capuzzello, Giovanni ; Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika...
Acta Veterinaria Scandinavica.  64 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

A large deletion in the COL2A1 gene expands the spectrum of..:

Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika ; Letko, Anna..
Acta Veterinaria Scandinavica.  62 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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4

MYH3-associated non-syndromic palatoschisis (cleft palate, ..:

Pontes Jacinto, Joana Goncalves ; Schiavon, Eliana ; Häfliger, Irene M...
https://boris.unibe.ch/180697/.  , 2023
Link: https://boris.unibe.ch/1..
 
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5

Short communication: Prevalence of deleterious variants cau..:

Pontes Jacinto, Joana Goncalves ; Sbarra, F ; Quaglia, A..
https://boris.unibe.ch/170824/.  , 2022
Link: https://boris.unibe.ch/1..
 
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6

A Missense Variant in PLP2 in Holstein Cattle with X-Linked..:

Pontes Jacinto, Joana Goncalves ; Muscatello, Luisa Vera ; Häfliger, Irene M...
https://boris.unibe.ch/173248/.  , 2022
Link: https://boris.unibe.ch/1..
 
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7

A large deletion encompassing exon 2 of the ectodysplasin A..:

Capuzzello, Giovanni ; Pontes Jacinto, Joana Gonçalves ; Häfliger, Irene Monika...
https://boris.unibe.ch/172741/.  , 2022
Link: https://boris.unibe.ch/1..
 
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8

A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Respons..:

Kuca, Thibaud ; Marron, Brandy M ; Pontes Jacinto, Joana Goncalves...
https://boris.unibe.ch/156143/.  , 2021
Link: https://boris.unibe.ch/1..
 
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9

A large deletion in the COL2A1 gene expands the spectrum of..:

Pontes Jacinto, Joana Goncalves ; Häfliger, Irene Monika ; Letko, Anna..
https://boris.unibe.ch/146420/.  , 2020
Link: https://boris.unibe.ch/1..
 
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10

A Heterozygous Missense Variant in the COL5A2 in Holstein C..:

Pontes Jacinto, Joana Goncalves ; Häfliger, Irene M ; Veiga, Inês M. B...
https://boris.unibe.ch/147771/.  , 2020
Link: https://boris.unibe.ch/1..
 
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11

A large deletion encompassing exon 2 of the ectodysplasin A..:

Capuzzello, Giovanni ; Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika...
https://eprints.gla.ac.uk/278108/1/278108.pdf.  , 2022
Link: https://eprints.gla.ac.u..
 
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12

New perspectives of genetic disorders in cattle:

Goncalves Pontes Jacinto, Joana
http://amsdottorato.unibo.it/10418/1/jacinto_joana_tesi.pdf.  , 2022
Link: http://amsdottorato.unib..
 
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13

A large deletion encompassing exon 2 of the ectodysplasin A..:

Capuzzello, Giovanni ; Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446731/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

A large deletion encompassing exon 2 of the ectodysplasin A..:

Capuzzello, Giovanni ; Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika...
info:eu-repo/semantics/altIdentifier/pmid/36068608.  , 2022
Link: https://hdl.handle.net/1..
 
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15

A large deletion in the COL2A1 gene expands the spectrum of..:

Jacinto, Joana Gonçalves Pontes ; Häfliger, Irene Monika ; Letko, Anna..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487585/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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