Results 141 to 150 of about 407,247 (295)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Puzzling Over History: A Study of Late Antique Cyprus through Mosaic Art

, 2011
This research paper focuses on the mosaic art found in Cyprus that was created during the period of Late Antiquity, which for the purposes of my paper is defined as the 2nd to 6th century A.D.
Hogan, Melissa
core  

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

PGT-A Chromosomal Outcomes in Trophectoderm Biopsies from Women with Endometriosis: A Retrospective IVF Cohort Study. [PDF]

Diagnostics (Basel)
Ghilea Seleș L, Murvai VR, Marius G, Naghi P, Maghiar L, Bodog A, Huniadi AC.   +6 more
europepmc   +1 more source

The Mosaic of Addiction [PDF]

American Journal of Psychiatry, 2004
openaire   +2 more sources

Mosaic Trisomy 14 with Severe Short Stature: A Case Report. [PDF]

Genes (Basel)
Yin C, Ye J, Hou L, Luo X.
europepmc   +1 more source

The Temporal Resolution Needed for Speech Intelligibility Assessed with Mosaic Speech: Effects of Block Duration, Age, and Word Familiarity. [PDF]

Audiol Res
Remijn GB, Uzuhashi Y, Hasuo E, Ueda K, Nakajima Y.   +4 more
europepmc   +1 more source

Figures, table of contents

, 2019
Mosaic Fertilizer, LLC Ona Mine Compensatory Mitigation Plan (CMP) Nov 2016 Revisions FIGURES Table of Contents Topics 8. MITIGATION Figure No. Communities Adjacent to Streams ..... ................... ...... .... ...... ..... ...... ............
Mosaic Fertilizer, LLC
core  

New techniques for old bones: Morphometric and diffeomorphometric analysis of the bony labyrinth of the Reilingen and Ehringsdorf Neandertals

The Anatomical Record, EarlyView.
Abstract Neandertals are known to possess very distinctive traits in their bony labyrinth morphology, such as an inferiorly positioned posterior canal and a very low number of turns in the cochlea. Hence, the inner ear has been often used to assess the Neandertal status of fragmentary fossils.
Alessandro Urciuoli, Julia Diez‐Valero, Ignacio Martínez, Rolf Quam, Brian A. Keeling, Nicole M. Webb, Mercedes Conde‐Valverde   +6 more
wiley   +1 more source

Recovery course of photoreceptor damage in a patient with cat scratch disease neuroretinitis: 2.5-year observation using adaptive optics retinal imaging. [PDF]

Am J Ophthalmol Case Rep
Aoyama R, Sakai D, Ito SI, Matsumiya W, Yamamoto M, Gocho K, Sugita S, Nakamura M, Kurimoto Y.   +8 more
europepmc   +1 more source