Results 31 to 40 of about 83,196 (310)

Map of work units based on cluster analysis for similar management decision (C11: facies 4,6,8,9,16; C2: facies 1,5,7,11,15; C121: facies 12,13; C1222; facies 2; C1221: facies 3,10,14,17). [PDF]

, 2019
Map of work units based on cluster analysis for similar management decision (C11: facies 4,6,8,9,16; C2: facies 1,5,7,11,15; C121: facies 12,13; C1222; facies 2; C1221: facies 3,10,14,17).
Hassan Khosravi (8150787), Alireza Shahriyari (8150790), Farhad Zolfaghari (8150784), Mitra Jabbari (8150793), Azam Abolhasani (8150796)   +4 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +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

Facies and sequence stratigraphic implications of the Statfjord formation (upper triassic-lower Jurassic), northern north sea, UK [PDF]

, 1996
Detailed sedimentological logging of core, and interpretation of wireline logs from the Brent Oil Field, northern North Sea, have allowed for the identification of sedimentary facies and environments of the Upper Triassic-Lower Jurassic Statfjord ...
Tawengi, Khaeri Segayer
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Facies and sequence stratigraphy of the tamet formation (middle eocene), eastern sirte basin, Libya [PDF]

, 1995
The middle Eocene Tamet Formation on the eastern side of the Sirte Basin, is largely shallow-marine carbonate platform-to-basin transition formed along passive margin.
El Hassi, Aiyad Mohamed
core  

Groundwater hydrochemistry and water quality evaluation in the eastern Rif region (northern Taza, Morocco) [PDF]

E3S Web of Conferences
Groundwater is an essential resource for drinking water supply in the Eastern Rif region. However, the quality of these resources can be influenced by geological and hydrogeological conditions and human activities.
Najjar Ouafae, Bougarne Loubna, Er-ramach Abdelhay, Ben Abbou Mohamed, Taleb Mustapha, Rais Zakia   +5 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Carbonate facies, diagenesis and sequence stratigraphy of an eocene nummulitic seservoir interval (jdeir formation), offshore NW Libya [PDF]

, 2006
This study investigates the sedimentology, petrology and depositional environments of a major Early Eocene nummulitic reservoir unit: the Jdeir Formation, from offshore NW Libya in the Mediterranean Sea. This formation is a prolific hydrocarbon-producing
Alhnaish, Abdelhakim S.
core  

Earliest Triassic microbialites in the South China Block and other areas; controls on their growth and distribution [PDF]

, 2007
Earliest Triassic microbialites (ETMs) and inorganic carbonate crystal fans formed after the end-Permian mass extinction (ca. 251.4 Ma) within the basal Triassic Hindeodus parvus conodont zone.
Kershaw, S, Feng, Q. L., Reynolds, A., Guo, L., Colin, J.-P., Crasquin-Soleau, S, Li, Y., Feng, Q, Mu, X, Reynolds, A, Crasquin-Soleau, S., Feng, Q., Li, Y, Mu, X. N., Collin, P. Y., Kershaw, S., Mu, X., Collin, PY, Guo, L   +18 more
core   +1 more source