Suchergebnisse - "Castañeda, Jennifer"

PubPharm (27)

1

Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

enthalten in: ResearchSquare.com | 2024

von Wertheim-Tysarowska, K. | Osipowicz, K. | Woźniak, K. | +41

2

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications : Polish Experience with 7400 Pregnancies

enthalten in: Genes | 2022

von Kowalczyk, K. | Bartnik-Głaska, M. | Smyk, M. | +41

3

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

enthalten in: Genes | 2021

von Kowalczyk, K. | Bartnik-Głaska, M. | Smyk, M. | +19

4

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

enthalten in: Genes | 2021

von Dawidziuk, M. | Gambin, T. | Bukowska-Olech, E. | +44

5

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

enthalten in: Journal of applied genetics | 2021

von Jakubiak, A. | Szczałuba, K. | Badura-Stronka, M. | +16

6

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome : A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

enthalten in: Genes | 2021

von Kutkowska-Kaźmierczak, A. | Boczar, M. | Kalka, E. | +24

7

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

enthalten in: Journal of applied genetics | 2021

von Jakubiak, A. | Szczałuba, K. | Badura-Stronka, M. | +16

8

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

enthalten in: Journal of applied genetics | 2021

von Jakubiak, A. | Szczałuba, K. | Badura-Stronka, M. | +16

9

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders

enthalten in: Journal of medical genetics | 2019

von Murcia Pienkowski, V. | Kucharczyk, M. | Młynek, M. | +19

10

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

enthalten in: European journal of human genetics : EJHG | 2018

von Wiszniewski, W. | Gawlinski, P. | Gambin, T. | +34