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Guiomar Pérez de Nanclares
271  results:
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1

Choosing the Best Tissue and Technique to Detect Mosaicism ..:

Vado, Yerai ; Manero-Azua, Africa ; Pereda, Arrate.
Genes.  15 (2024)  1 - p. 120 , 2024
Link: https://doi.org/10.3390/..
 
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2

A Protein Misfolding Shaking Amplification-based method for..:

Eraña, Hasier ; Sampedro-Torres-Quevedo, Cristina ; Charco, Jorge M....
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Multi-locus imprinting disturbance (MLID): interim joint st..:

Mackay, Deborah J. G. ; Gazdagh, Gabriella ; Monk, David...
Clinical Epigenetics.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Recombinant growth hormone improves growth and adult height..:

Ertl, Diana-Alexandra ; de Nanclares, Guiomar Perez ; Jüppner, Harald...
European Journal of Endocrinology.  189 (2023)  1 - p. 123-131 , 2023
Link: https://doi.org/10.1093/..
 
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5

C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinic..:

Kortazar-Zubizarreta, Izaro ; Manero-Azua, Africa ; Afonso-Agüera, Juan.
Journal of Personalized Medicine.  13 (2023)  9 - p. 1396 , 2023
Link: https://doi.org/10.3390/..
 
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6

Imprinting disorders:

Eggermann, Thomas ; Monk, David ; de Nanclares, Guiomar Perez...
Nature Reviews Disease Primers.  9 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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7

Vitamin D deficiency in adulthood: Presentation of 2 famili..:

Manero-Azua, África ; Pereda, Arrate ; González Cabrera, Natalia...
Medicina Clínica (English Edition).  161 (2023)  11 - p. 493-497 , 2023
Link: https://doi.org/10.1016/..
 
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8

Frequency of de novo variants and parental mosaicism in fam..:

Vado, Yerai ; Pereda, Arrate ; Manero-Azua, Africa..
Frontiers in Endocrinology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Recomendaciones nutricionales para pacientes con seudohipop..:

Miñones-Suarez, Lorena ; Pérez de Nanclares, Guiomar ; Marín-del Barrio, Silvia...
Anales de Pediatría.  99 (2023)  2 - p. 129-135 , 2023
Link: https://doi.org/10.1016/..
 
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10

New pathogenic variant in DLX5: New clues for a clinical sp..:

Sifre-Ruiz, Anna ; Sagasta, Amaia ; Santos, Erika..
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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11

Nutrition recommendations for patients with pseudohypoparat..:

Miñones-Suarez, Lorena ; Pérez de Nanclares, Guiomar ; Marín-del Barrio, Silvia...
Anales de Pediatría (English Edition).  99 (2023)  2 - p. 129-135 , 2023
Link: https://doi.org/10.1016/..
 
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12

Analysis of a large case series of fatal familial insomnia ..:

Kortazar-Zubizarreta, Izaro ; Eraña, Hasier ; Pereda, Arrate...
Journal of Neuropathology & Experimental Neurology.  82 (2023)  2 - p. 169-179 , 2023
Link: https://doi.org/10.1093/..
 
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13

Blood β-Synuclein and Neurofilament Light Chain During the ..:

Halbgebauer, Steffen ; Abu-Rumeileh, Samir ; Oeckl, Patrick...
Neurology.  98 (2022)  14 - p. , 2022
Link: https://doi.org/10.1212/..
 
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14

First step towards a consensus strategy for multi-locus dia..:

Mackay, Deborah ; Bliek, Jet ; Kagami, Masayo...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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