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                             19 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17 Sendur, Suleyman Nahit
2019
62 8 p.
artikel
2 A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly Khan, Feroz
2019
62 8 p.
artikel
3 Are we ready for genome editing in human embryos for clinical purposes? Harper, Joyce C.
2019
62 8 p.
artikel
4 Coexistence of schwannomatosis and glioblastoma in two families Deiller, Caroline
2019
62 8 p.
artikel
5 Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA Kaur, Parneet
2019
62 8 p.
artikel
6 Controlled ovarian hyperstimulation (COH) parameters associated with euploidy rates in donor oocytes McCulloh, David H.
2019
62 8 p.
artikel
7 Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis Sohn, Young Bae
2019
62 8 p.
artikel
8 Editorial Board 2019
62 8 p.
artikel
9 Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks Kadam, Leena
2019
62 8 p.
artikel
10 Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma Schieffer, Kathleen M.
2019
62 8 p.
artikel
11 From phenotyping to genotyping - bioinformatics for the busy clinician Reches, A.
2019
62 8 p.
artikel
12 Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum Demeulenaere, Sofie
2019
62 8 p.
artikel
13 Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome Farah, Roula A.
2019
62 8 p.
artikel
14 Riluzole effectively treats psychotic symptoms and improves cognition in 22q11.2 deletion syndrome: A clinical case Vingerhoets, Claudia
2019
62 8 p.
artikel
15 The demise of preimplantation genetic testing for aneuploidy (PGT-A) in Hungary and its effect on patient care Varga, Karolina
2019
62 8 p.
artikel
16 Theory and practice of preimplantation genetic screening (PGS) Schmutzler, Andreas G.
2019
62 8 p.
artikel
17 Update on the use of exome sequencing in the diagnosis of fetal abnormalities Ferretti, Lauren
2019
62 8 p.
artikel
18 Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform Treff, Nathan R.
2019
62 8 p.
artikel
19 VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report Uwineza, Annette
2019
62 8 p.
artikel
                             19 gevonden resultaten
 
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