Results 291 to 300 of about 188,851 (389)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Three new species of the cockroach genus <i>Nocticola</i> Bolívar, 1892 (Blattodea, Corydioidea, Nocticolidae) from China. [PDF]

Zookeys
Li TT, Liu DX, Chen J, Wei XY, Yue QY, Qiu DY.   +5 more
europepmc   +1 more source

The male genitalia of some neotropical Drosophila: notes and illustrations

, 1982
F. C. Val
openalex   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report. [PDF]

Gynecol Oncol Rep
Xue Y, Zuo S, Cui M, Zhao X, Qi X.
europepmc   +1 more source

The male genitalia of <i>Monochamus sutor</i> (L.), <i>M. galloprovincialis</i> (Olivier) and <i>M. urussovi</i> (Fischer von Waldheim) (Coleoptera, Cerambycidae)

, 1991
Jyrki Tomminen, Pirjo Leppänen
openalex   +2 more sources

Discovery of two new weevil species of <i>Pholicodes</i> Schoenherr, 1826 (Coleoptera: Curculionidae: Entiminae) from eastern Turkey. [PDF]

PeerJ
Gültekin L, Gültekin N.
europepmc   +1 more source

Two cases of external genitalia basal cell epithelioma and statistics of basal cell epithelioma at this department.

, 1994
Nobuko Kobayashi, Akio Tsuda, Yuriko ENDOH, Izumi Yokoyama, Yuri Egawa, Fumiyuki Itoh, Tokuya Omi, Michiko Nakajima   +7 more
openalex   +2 more sources

A DNA barcode library for Culex mosquitoes (Diptera: Culicidae) of South America with the description of two cryptic species of subgenus Melanoconion. [PDF]

PLoS One
Talaga S, Guidez A, de Thoisy B, Lavergne A, Carinci R, Gaborit P, Issaly J, Dusfour I, Duchemin JB.   +8 more
europepmc   +1 more source