Results 311 to 320 of about 1,221,818 (402)

Dominantes Allel [PDF]

, 2018
openaire   +2 more sources

Interplay between CTCF-binding and CTCF-lacking regulatory elements in generating an architectural stripe at the Igh locus. [PDF]

Nat Commun
Ma F, Ollikainen N, Du H, Braikia FZ, Cui N, Bianchi AH, Dunn C, Nguyen C, Fan J, De S, Sen R, Qiu X.   +11 more
europepmc   +1 more source

THE METASTABLE NATURE OF PARAMUTABLE R ALLELES IN MAIZE. I. HERITABLE ENHANCEMENT IN LEVEL OF STANDARD Rr ACTION

, 1966
E. D. Styles, R. A. Brink
openalex   +2 more sources

HLA Polymorphisms Linked to the Severity and Extent of Periodontitis in Patients with Type 1 Diabetes from a Brazilian Mixed Population. [PDF]

Int J Environ Res Public Health
Menezes CFS, Lage LM, Santos LGS, Nascimento GC, Magalhães M, Facundo A, Silva DA, Porto LC, Gomes MB, Faria MDS, Azulay RS, Rodrigues V.   +11 more
europepmc   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Considerations for the Implementation of Massively Parallel Sequencing into Routine Kinship Analysis. [PDF]

Genes (Basel)
Davenport L, Devesse L, Satmun S, Syndercombe Court D, Ballard D.   +4 more
europepmc   +1 more source

RECONSTITUTION OF THE VARIEGATED PERICARP ALLELE IN MAIZE BY TRANSPOSITION OF MODULATOR BACK TO THE P LOCUS

, 1966
E. R. Orton, R. A. Brink
openalex   +2 more sources

Predicting reverse-bound peptide conformations in MHC Class II with PANDORA. [PDF]

Front Immunol
Rademaker DT, Parizi FM, van Vreeswijk M, Eerden S, Marzella DF, Xue LC.   +5 more
europepmc   +1 more source

EFFECT OF A TRANSLOCATION IN MAIZE ON SENSITIVITY TO PARAMUTATION OF Rr ALLELES FROM THREE GEOGRAPHIC SOURCES

, 1965
R. A. Brink, J. Venkateswarlu
openalex   +2 more sources

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source