Thyroid hormone transporters at the plasma membrane govern intracellular bioavailability of
thyroid hormone. Monocarboxylate transporter (MCT) 8 and MCT10, organic anion …

Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …

Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an
established molecular basis. Although individually uncommon, Mendelian diseases …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

Endosomes have emerged as a central hub and pathogenic driver of Alzheimer's disease
(AD). The earliest brain cytopathology in neurodegeneration, occurring decades before …

Advances in understanding the etiology of Parkinson disease have been driven by the
identification of causative mutations in families. Genetic analysis of an Australian family with …

2016-06-20 Assigned to NATIONAL INSTITUTES OF HEALTH (NIH), US DEPT. OF HEALTH
AND HUMAN SERVICES (DHHS), US GOVERNMENT reassignment NATIONAL …

Lynch syndrome (hereditary nonpolyposis colon cancer) and adenomatous polyposis
syndromes frequently have overlap** clinical features. Current approaches for molecular …

More than 50% of families with suspected rare monogenic diseases remain unsolved after
whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) …

First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
43898938&utm_source= google_patent&utm_medium= platform_link&utm_campaign …