Results 191 to 200 of about 213,927 (355)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Controls of reservoir quality for submarine fan of F4 Formation in the Z oilfield, Illizi Basin, Algeria. [PDF]

Sci Rep
Li C, Li W, Ye HM, Zhu Q, Shan X, Wang H, Wang S, Zhang Z, Zhou X, Xue Z, Ma R.   +10 more
europepmc   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +1 more source

Petrographic image classification of complex carbonate rocks from the Brazilian pre-salt using convolutional neural networks. [PDF]

Sci Rep
Basso M, Souza JPDP, Chinelatto GF, Mansini LAA, Vidal AC.   +4 more
europepmc   +1 more source

Zootomia democritaea: id est, Anatome generalis totius animantium opificii : libris quinque distincta, quorum seriem sequens facies delineabit ...

Marco Aurelio Severino, Johann Georg Volckamer, Copho.   +2 more
openalex   +2 more sources

On the Mantle Facies Classification and the Diversity of the Primary Magmas

, 1965
Takashi Matsumoto
openalex   +2 more sources

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Holocene climate change recorded of Milanggouwan and Dishaogouwan sedimentary profile in the Salawusu River Basin. [PDF]

Sci Rep
Sun Z, Zhang W, Liu L, Niu D, Li B, Gu S, Aketaqin G.   +6 more
europepmc   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Revealing the past of Ginah archaeological site by enhancing GPR images to understand ancient periods at Kharga Oasis, Egypt. [PDF]

Sci Rep
Ebraheem MO, Ibrahim HA, Zalat MM.
europepmc   +1 more source