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1.
Large neutral amino acid levels tune perinatal neuronal excitability and survival.
Cell
; 186(9): 1950-1967.e25, 2023 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36996814
2.
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Orphanet J Rare Dis
; 19(1): 114, 2024 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38475835
3.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Eur J Hum Genet
; 30(4): 428-438, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34974531
4.
Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.
Breast Cancer Res Treat
; 119(1): 233-7, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19011960
5.
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
Mol Syndromol
; 9(6): 287-294, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30800044
6.
Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.
PLoS One
; 10(12): e0144811, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26669558
7.
Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A review.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 158(3): 339-45, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24263214
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