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Martorell Sampol, Loreto
25  results:
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1

Tamaño de repeticiones CTG no aumentado en la transmisión d..:

Goñi Ros, Nuria ; Sienes Bailo, Paula ; González Tarancón, Ricardo..
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio.  4 (2023)  2 - p. 190-194 , 2023
Link: https://doi.org/10.1515/..
 
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2

No increase in the CTG repeat size during transmission from..:

Goñi Ros, Nuria ; Sienes Bailo, Paula ; González Tarancón, Ricardo..
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio.  4 (2023)  2 - p. 185-189 , 2023
Link: https://doi.org/10.1515/..
 
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3

Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mi..:

Mínguez Rodríguez, Beatriz ; Molera Busoms, Cristina ; Martorell Sampol, Loreto...
Gastroenterología y Hepatología (English Edition).  45 (2022)  8 - p. 585-592 , 2022
Link: https://doi.org/10.1016/..
 
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4

Deep‐intronic variants inCNGB3cause achromatopsia by pseudo..:

Weisschuh, Nicole ; Sturm, Marc ; Baumann, Britta...
Human Mutation.  41 (2019)  1 - p. 255-264 , 2019
Link: https://doi.org/10.1002/..
 
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5

An innovative strategy for the molecular diagnosis of Usher..:

Bonnet, Crystel ; Riahi, Zied ; Chantot-Bastaraud, Sandra...
European Journal of Human Genetics.  24 (2016)  12 - p. 1730-1738 , 2016
Link: https://doi.org/10.1038/..
 
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6

Novel CYP4F22 mutations associated with autosomal recessive..:

Esperón-Moldes, Uxia ; Ginarte-Val, Manuel ; Rodríguez-Pazos, Laura...
PLOS ONE.  15 (2020)  2 - p. e0229025 , 2020
Link: https://doi.org/10.1371/..
 
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7

Diagnosis and Treatment of Digitocutaneous Dysplasia, a Rar..:

González, Marisa Cabrera ; López, Laura M. Pérez ; Iglesia, Diego Gutiérrez de la...
HAND.  8 (2013)  4 - p. 473-478 , 2013
Link: https://doi.org/10.1007/..
 
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8

Lateralized overgrowth as a guiding sign of abdominal neopl..:

Parada-Avendaño, Isabel ; Salvador, Héctor ; García, Rocío G....
Joint Diseases and Related Surgery.  34 (2023)  1 - p. 3-8 , 2023
Link: https://doi.org/10.52312..
 
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9

No increase in the CTG repeat size during transmission from..:

Goñi Ros Nuria ; Sienes Bailo Paula ; González Tarancón Ricardo..
https://doi.org/10.1515/almed-2022-0079.  , 2023
Link: https://doi.org/10.1515/..
 
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10

Tamaño de repeticiones CTG no aumentado en la transmisión d..:

Goñi Ros Nuria ; Sienes Bailo Paula ; González Tarancón Ricardo..
https://doi.org/10.1515/almed-2022-0120.  , 2023
Link: https://doi.org/10.1515/..
 
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11

Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threaten..:

Solé-Ribalta, Anna ; Rodríguez-Fanjul, Xavier ; Carretero-Bellon, Juna Manuel...
The Journal of Pediatrics.  211 (2019)  - p. 221-221.e2 , 2019
Link: https://doi.org/10.1016/..
 
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12

An innovative strategy for the molecular diagnosis of Usher..:

Bonnet, Crystel ; Riahi, Zied ; Chantot-Bastaraud, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99.  , 2016
Link: https://pasteur.hal.scie..
 
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13

An innovative strategy for the molecular diagnosis of Usher..:

Bonnet, Crystel ; Riahi, Zied ; Chantot-Bastaraud, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99.  , 2016
Link: https://pasteur.hal.scie..
 
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14

An innovative strategy for the molecular diagnosis of Usher..:

Bonnet, Crystel ; Riahi, Zied ; Chantot-Bastaraud, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99.  , 2016
Link: https://pasteur.hal.scie..
 
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15

An innovative strategy for the molecular diagnosis of Usher..:

Bonnet, Crystel ; Riahi, Zied ; Chantot-Bastaraud, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99.  , 2016
Link: https://hal-pasteur.arch..
 
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