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1 . Academic Journal
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis
저자
by
Bakhshalizadeh, Shabnam
;
Afkhami, Fateme
;
Bell, Katrina M.
;
Robevska, Gorjana
;
van den Bergen, Jocelyn
, et al.
소스
In
Molecular and Cellular Endocrinology
1 June 2024 587
Full Text (ScienceDirect)
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7 . Academic Journal
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development
저자
by
Sreenivasan, Rajini
;
Bell, Katrina
;
van den Bergen, Jocelyn
;
Robevska, Gorjana
;
Belluoccio, Daniele
, et al.
소스
In
Molecular and Cellular Endocrinology
15 April 2022 546
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7 . Academic Journal
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
저자
by
Bakhshalizadeh, Shabnam
;
Bird, Anthony D.
;
Sreenivasan, Rajini
;
Bell, Katrina M.
;
Robevska, Gorjana
, et al.
소스
Genes
. Mar2024, Vol. 15 Issue 3, p333. 17p.
Web of Science
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7 . Academic Journal
Bilan génétique up to date de l'insuffisance ovarienne prématurée.
저자
by
Lokchine, Anna
;
Tucker, Elena J.
;
Christin-Maitre, Sophie
;
Jaillar, Sylvie
.
소스
Médecine de la Reproduction
. jul-sep2023, Vol. 25 Issue 3, p303-321. 19p.
Scopus
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6 . Academic Journal
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
저자
by
Tucker, Elena J.
;
Baker, Megan J.
;
Hock, Daniella H.
;
Warren, Julia T.
;
Jaillard, Sylvie
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Dec2022, Vol. 107 Issue 12, p3328-3340, 13p
Full Text (OUP)
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7 . Academic Journal
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
저자
by
Tucker, Elena J.
;
Gutfreund, Niklas
;
Belaud‐Rotureau, Marc‐Antoine
;
Gilot, David
;
Brun, Tiffany
, et al.
소스
Human Mutation; Oct2022, Vol. 43 Issue 10, p1443-1453, 11p
Web of Science
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7 . Periodical
LARS2variants can present as premature ovarian insufficiency in the absence of overt hearing loss
저자
by
Neyroud, Anne Sophie
;
Rudinger-Thirion, Joëlle
;
Frugier, Magali
;
Riley, Lisa G.
;
Bidet, Maud
, et al.
소스
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-8, 8p
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7 . Academic Journal
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
저자
by
Bakhshalizadeh, Shabnam
;
Hock, Daniella H.
;
Siddall, Nicole A.
;
Kline, Brianna L.
;
Sreenivasan, Rajini
, et al.
소스
Human Genetics
. :1-29
Web of Science
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7 . Academic Journal
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
저자
by
Neyroud, Anne Sophie
;
Rudinger-Thirion, Joëlle
;
Frugier, Magali
;
Riley, Lisa G.
;
Bidet, Maud
, et al.
소스
European Journal of Human Genetics
. 31(4):453-460
Web of Science
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7 . Academic Journal
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
저자
by
Toujani, Saloua
;
Tucker, Elena J.
;
Akloul, Linda
;
Mary, Laura
;
Pimentel, Céline
, et al.
소스
Cytogenetic & Genome Research
. 2022, Vol. 162 Issue 3, p124-131. 8p.
Web of Science
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