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Pinto-Basto, Jorge
126  Ergebnisse:
Personensuche X
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1

P614: The clinical genome: Validation data beyond clinical ..:

Tripolszki, Kornelia ; Bilinski, Melina ; Bieg, Matthias...
Genetics in Medicine Open.  2 (2024)  - p. 101520 , 2024
Link: https://doi.org/10.1016/..
 
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2

P576: Impact of processed pseudogene insertions in genetic ..:

Tripolszki, Kornelia ; Martini, Javier ; Kampe, Kapil...
Genetics in Medicine Open.  1 (2023)  1 - p. 100623 , 2023
Link: https://doi.org/10.1016/..
 
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3

P427: Beyond genomics: Using RNA-seq in filter cards to unl..:

Al-Ali, Ruslan ; Radefeldt, Mandy ; Lemke, Sabrina..
Genetics in Medicine Open.  1 (2023)  1 - p. 100474 , 2023
Link: https://doi.org/10.1016/..
 
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4

A report of congenital adrenal hyperplasia due to 17α-hydro..:

Espinosa-Herrera, Fernando ; Espín, Estefanía ; Tito-Álvarez, Ana M....
Gynecological Endocrinology.  36 (2019)  1 - p. 24-29 , 2019
Link: https://doi.org/10.1080/..
 
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5

The Liberfarb syndrome, a multisystem disorder affecting ey..:

Peter, Virginie G. ; Quinodoz, Mathieu ; Pinto-Basto, Jorge...
Genetics in Medicine.  21 (2019)  12 - p. 2734-2743 , 2019
Link: https://doi.org/10.1038/..
 
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6

Refractory epilepsy in Norrie disease:

Cação, Gonçalo ; Garrido, Cristina ; Miranda, Vasco...
Neurological Sciences.  39 (2018)  9 - p. 1631-1633 , 2018
Link: https://doi.org/10.1007/..
 
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7

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency o..:

Lopes, Fátima ; Soares, Gabriela ; Gonçalves-Rocha, Miguel..
Frontiers in Genetics.  8 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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8

Elevation of gamma-glutamyl transferase in adult: Should we..:

Oliveira, Hugo M. ; Pereira, Cláudia ; Santos Silva, Ermelinda..
Digestive and Liver Disease.  48 (2016)  2 - p. 203-205 , 2016
Link: https://doi.org/10.1016/..
 
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9

Alu elements mediate large SPG11 gene rearrangements: furth..:

Pereira, Maria Conceição ; Loureiro, José Leal ; Pinto-Basto, Jorge...
Genetics in Medicine.  14 (2012)  1 - p. 143-151 , 2012
Link: https://doi.org/10.1038/..
 
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10

Prostate cancer in Cowden syndrome: somatic loss and germli..:

Barbosa, Mafalda ; Henrique, Martinha ; Pinto-Basto, Jorge..
Cancer Genetics.  204 (2011)  4 - p. 224-225 , 2011
Link: https://doi.org/10.1016/..
 
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11

FXTAS is rare among Portuguese patients with movement disor..:

Seixas, Ana I. ; Vale, José ; Jorge, Paula...
Behavioral and Brain Functions.  7 (2011)  1 - p. , 2011
Link: https://doi.org/10.1186/..
 
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12

Scope of definitions of genetic testing: evidence from a Eu..:

Pinto-Basto, Jorge ; Guimarães, Bárbara ; Rantanen, Elina...
Journal of Community Genetics.  1 (2010)  1 - p. 29-35 , 2010
Link: https://doi.org/10.1007/..
 
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13

Sensory neuronopathy in ataxia with oculomotor apraxia type..:

Gazulla, José ; Benavente, Isabel ; López-Fraile, Isabel Pérez...
Journal of the Neurological Sciences.  298 (2010)  1-2 - p. 118-120 , 2010
Link: https://doi.org/10.1016/..
 
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14

Osteopathia striata with cranial sclerosis owing to WTX gen..:

Perdu, Bram ; Freitas, Fenna de ; Frints, Suzanne GM...
Journal of Bone and Mineral Research.  25 (2010)  1 - p. 82-90 , 2010
Link: https://doi.org/10.1359/..
 
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15

Genotypes at the APOE and SCA2 loci do not predict the cour..:

Santos, Mónica ; do Carmo Costa, Maria ; Rio, Maria Edite...
Multiple Sclerosis Journal.  10 (2004)  2 - p. 153-157 , 2004
Link: https://doi.org/10.1191/..
 
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