Detalles de la búsqueda
1.
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Hum Mol Genet
; 27(11): 1892-1904, 2018 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29547997
2.
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Cytogenet Genome Res
; 156(2): 87-94, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30372694
3.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28478456
4.
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Am J Med Genet A
; 173(7): 1943-1946, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28489314
5.
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.
J Med Life
; 13(4): 624-628, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33456614
6.
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Mol Cytogenet
; 12: 26, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31223340
7.
Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.
Aging (Albany NY)
; 9(5): 1453-1469, 2017 05 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-28562315
Resultados
1 -
7
de 7
1
Próxima >
>>