Results 141 to 150 of about 398 (251)

Theoretical Prediction of Umbilics Creation in Nematic Liquid Crystals with Positive Dielectric Anisotropy. [PDF]

ACS Omega, 2019
Habibpourmoghadam A.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Thermodynamic quantum phase transition by the structural-stability-based catastrophe theory. [PDF]

iScience
Wu JH, Niu J, Liu HL, Zhou K.
europepmc   +1 more source

Doubling of Asymptotically Flat Half-spaces and the Riemannian Penrose Inequality. [PDF]

Commun Math Phys, 2023
Eichmair M, Koerber T.
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Marginally outer trapped tubes in de Sitter spacetime. [PDF]

Lett Math Phys
Mars M, Rossdeutscher C, Simon W, Steinbauer R.   +3 more
europepmc   +1 more source

Geometry of gene regulatory dynamics. [PDF]

Proc Natl Acad Sci U S A, 2021
Rand DA, Raju A, Sáez M, Corson F, Siggia ED.   +4 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Planar Pseudo-geodesics and Totally Umbilic Submanifolds. [PDF]

J Geom Anal
Markvorsen S, Raffaelli M.
europepmc   +1 more source

Prediction of Fetal Growth Restriction for Fetal Umbilical Arterial/Venous Blood Flow Index Evaluated by Ultrasonic Doppler under Intelligent Algorithm. [PDF]

Comput Math Methods Med, 2022
Yu X, Yao Y, Wang D, Tang J, Lu J.
europepmc   +1 more source