Search Results

Found 11 results for "head-holder-disease_names Pr�natal"

Panel: Diabetes mellitus, neonataler

Kategorie: Endokrine Organe Stoffwechsel Diabetes mellitus, neonataler …

Panel: Progressive familiäre intrahepatische Cholestase

Kategorie: Leber Progressive familiäre intrahepatische Cholestase …

Panel: Störung der Fettsäure-Oxidation

Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability ACADS 606885 25338548 Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis ACADVL 609575 …

Panel: Monogener Diabetes

Kategorie: Endokrine Organe Stoffwechsel Monogener Diabetes …

Panel: Heterotaxie

2016: autosomal recessive laterality defect ANKS3 617310 ARMC4 615408 23035047 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. BCL9L 609004 …

Panel: Bartter-Syndrom

GNA11 139313 KCNJ1 600359 27120771 Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. MAGED2 300470 PMC3163795 Bartter-…

Panel: Hypopituitarismus

Kategorie: Endokrine Organe Hypopituitarismus PubID …

Panel: Insulin-Resistenz

Kategorie: Endokrine Organe Stoffwechsel Insulin-Resistenz …

Panel: Atypisches hämolytisch-urämisches Syndrom

CFI 217030 23542698 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome 24511134 Phenotypic Expansion of DGKE-Associated Diseases DGKE 601440 22447314 Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria…

Panel: Zapfen-Stäbchen-Dystrophie

ABCA4 601691 23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ACBD5 616618 19409519 Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration…