Robert Hufnagel to Developmental Disabilities
This is a "connection" page, showing publications Robert Hufnagel has written about Developmental Disabilities.
Connection Strength
0.496
-
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
Score: 0.163
-
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32.
Score: 0.126
-
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94.
Score: 0.117
-
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
Score: 0.045
-
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221.
Score: 0.044