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Author/Creator Llano‐Rivas, Isabel

1. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date. (21st April 2015)

Authors:
Martínez‐Fernández, María Luisa; Fernández‐Toral, Joaquin; Llano‐Rivas, Isabel; Bermejo‐Sánchez, Eva; MacDonald, Alexandra; Martínez‐Frías, María Luisa
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 9(2015:Sep.)
Page Start:
2034
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015)

Authors:
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1052
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Prenatal and foetal autopsy findings in glutaric aciduria type II. Issue 19 (22nd September 2020)

Authors:
Martinez‐Aracil, Adriano; Ruiz‐Onandi, Rebeca; Perez‐Rodriguez, Alvaro; Sagasta, Amaia; Llano‐Rivas, Isabel; Perez de Nanclares, Guiomar
Other Names:
Watanabe Michiko guestEditor.; Zhou Chengji J. guestEditor.
Journal:
Birth defects research
Issue:
Volume 112:Issue 19(2020)
Page Start:
1738
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗