The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

OBJECTIVE— We sought to determine the absolute risk of having a congenital anomaly in
relation to periconceptional GHb concentration among women with prepregnancy diabetes. …

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of
actin cytoskeleton and intracellular signal transduction, are associated with a rare …

MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and
transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals …

The concentration range over which a self-assembted macrocyclic structure is stable is
given by the critical self-assembly concentration (lower limit) and the effective molarity for …

Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion
within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The …

The aniline–zinc porphyrin interaction is an order of magnitude weaker than the corresponding
pyridine–zinc porphyrin interaction, but it is still strong enough to cause self-assembly of …

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function
of USP9X leads to neurodevelopmental disorders in males and females. While males are …

Pyridox(am)ine-5-phosphate oxidase deficiency is an autosomal recessive disorder of pyridoxine
metabolism. Intractable neonatal epileptic encephalopathy is the classical presentation…

Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic
ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with …