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Human Mutation|October 11, 2018
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiologyLiliana C Patiño, Isabelle Beau, Adrien Morel, et al.
Human Molecular Genetics|May 26, 2017
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiencyCarolina Carlosama, Maëva Elzaiat, Liliana C Patiño, et al.
The Journal of Clinical Endocrinology and Metabolism|November 27, 2019
BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian InsufficiencyLucie Renault, Liliana C Patiño, Françoise Magnin, et al.
Plos One|October 22, 2014
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosisLiliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, et al.
Clinical Endocrinology|September 7, 2007
Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadismIgnacio Bergadá, Luz Andreone, Patricia Bedecarrás, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 2, 2013
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorderTaryn Castro, Heidi Eliana Mateus, Dora Janeth Fonseca, et al.
Pediatric Endocrinology Reviews : PER|October 7, 2005
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunctionElfride De Baere, Silvia Copelli, Sandrine Caburet, et al.
Plos One|August 24, 2012
Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic deathMagalie Vatin, Gaetan Burgio, Gilles Renault, et al.
Reproductive Biomedicine Online|January 31, 2012
Screening for mutations of the FOXO4 gene in premature ovarian failure patientsDora Janeth Fonseca, Eliana Garzón, Besma Lakhal, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 13, 2003
Undertreatment strongly decreases prognosis of breast cancer in elderly womenChristine Bouchardy, Elisabetta Rapiti, Gérald Fioretta, et al.
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