Session

18.03.2022     11:40–12:30

Titel:
Poster Session
ClinG 1
Art:
Poster
Raum:
Franconia

18.03.2022
11:40–12:30

Titel:
Poster Session
ClinG 1
Art:
Poster
Raum:
Franconia
11:40–11:42
P-ClinG-074 A novel heterozygous nonsense variant in LMX1A is associated with mild non-syndromic hearing loss
Asuman Koparir (Würzburg/DE)
Redezeit: 2 min

11:42–11:44
P-ClinG-076 The Angelman Syndrome Online Registry – a multilingual approach to support global research
Ilona Krey (Leipzig/DE)
Redezeit: 2 min

11:44–11:46
P-ClinG-078 Exome sequencing vs chromosomal microarray for CNV analysis: ES is a reasonable first-tier diagnostic test for CNV detection
Gloria Leszinski (München/DE)
Redezeit: 2 min

11:46–11:48
P-ClinG-080 Diagnostic yield and benefits of whole-exome sequencing in patients with congenital renal anomalies diagnosed in the first thousand days of life
Helge Martens (Hannover/DE)
Redezeit: 2 min

11:48–11:50
P-ClinG-082 Andrological findings in infertile men with two (biallelic) CFTR mutations
Martina Messner (Innsbruck/AT), Sabine Rudnik-Schöneborn (Innsbruck/AT)
Redezeit: 2 min

11:50–11:52
P-ClinG-084 Mutational spectrum of ALS genes in a large German cohort – doorway to gene therapy
Kathrin Müller (Ulm/DE)
Redezeit: 2 min

11:52–11:54
P-ClinG-086 Trio whole exome sequencing and its impact on variant classification: De novo HCN1 mutation in an infant girl with developmental delay and ataxia
Lisa Neuhäusler (89231/DE), Alexandra Hentrich (Neu-Ulm/DE)
Redezeit: 2 min

11:54–11:56
P-ClinG-088 How DeepGestalt triggered WES re-analysis and led to the identification of a KANSL1 intragenic deletion causing Koolen-de Vries syndrome
Claudia Perne (Bonn/DE)
Redezeit: 2 min

11:56–11:58
P-ClinG-090 A novel pathogenic variant in ERCC2 causing a unclassifiable phenotype in two unrelated patients, further expansion of the clinical spectrum
Joseph Porrmann (Dresden/DE)
Redezeit: 2 min

11:58–12:00
P-ClinG-092 Twins with congenital disorder of glycosylation based on a SRD5A3 intragenic tandem duplication
Melissa Rieger (Erlangen/DE)
Redezeit: 2 min

12:00–12:02
P-ClinG-094 Male patient with a novel likely pathogenic variant in TFAP2B causing Char syndrome
Kimberly Roberts (Kiel/DE)
Redezeit: 2 min

12:02–12:04
P-ClinG-096 Phenotype diversity associated with TP63 mutations
Ariane Schmetz (Düsseldorf/DE)
Redezeit: 2 min

12:04–12:06
P-ClinG-098 First German Language Master of Science in Genetic and Genomic Counselling
Gunda Schwaninger (Innsbruck/AT)
Redezeit: 2 min

12:06–12:08
P-ClinG-100 Severe unilateral hand malformation and cholesteatoma in a boy with Helsmoortel-Van der Aa syndrome 
Friedrich Stock (Essen/DE)
Redezeit: 2 min

12:08–12:10
P-ClinG-104 9p Deletion 9p24.3p23 in an 8-year old Girl with Developmental Delay, a large Head Circumference and Brachydactyly
Louiza Toutouna (Freiburg/DE)
Redezeit: 2 min

12:10–12:12
P-ClinG-106 Results of trio exome analyses in 20 hospitalised newborns and infants with an unclear symptom complex (OPS number 1-944.10)
Clara Velmans (Köln/DE)
Redezeit: 2 min

12:12–12:14
P-ClinG-108 Diagnostic yield of genetic testing in patients with inherited eye diseases using virtual gene panel analysis
Pablo Villavicencio-Lorini (Halle (Saale)/DE)
Redezeit: 2 min

12:14–12:16
P-ClinG-110 There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
Dominik Westphal (München/DE)
Redezeit: 2 min