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1.
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
Cytogenet Genome Res
; 162(3): 97-108, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35636401
2.
Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Cytogenet Genome Res
; 160(5): 245-254, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32485717
3.
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Nat Med
; 29(12): 3233-3242, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37996709
4.
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Genes (Basel)
; 11(12)2020 12 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33316910
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