Suchergebnisse - "Patiño, Liliana Catherine"

PubPharm (9)

1

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

enthalten in: Clinical endocrinology | 2018

von Carlosama, C. | Patiño, L. | Beau, I. | +5

2

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

enthalten in: Human reproduction (Oxford, England) | 2017

von Patiño, L. | Beau, I. | Carlosama, C. | +8

3

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

enthalten in: Systems biology in reproductive medicine | 2017

von Patiño, L. | Silgado, D. | Laissue, P.

4

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

enthalten in: Fertility and sterility | 2015

von Fonseca, D. | Patiño, L. | Suárez, Y. | +6

5

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

enthalten in: Fertility and sterility | 2015

von Fonseca, D. | Patiño, L. | Suárez, Y. | +6

6

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

enthalten in: Reproductive biomedicine online | 2014

von Fonseca, D. | Ortega-Recalde, O. | Esteban-Perez, C. | +7

7

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

enthalten in: Reproductive biomedicine online | 2014

von Fonseca, D. | Ortega-Recalde, O. | Esteban-Perez, C. | +7

8

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

enthalten in: PloS one | 2014

von Patiño, L. | Battu, R. | Ortega-Recalde, O. | +4

9

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

enthalten in: Mitochondrion | 2013

von Ortega-Recalde, O. | Fonseca, D. | Patiño, L. | +6

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