Results 201 to 210 of about 57,017 (251)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Admission of very old patients with respiratory infections to intensive care units: should we consider the sex in the decision-making process? [PDF]

Eur Respir Rev
Guillon A, Kassa-Sombo A, Goulenok C, Leonard T, Grammatico-Guillon L.   +4 more
europepmc   +1 more source

Economía medioambiental. Una reflexión crítica desde el punto de vista de la contabilidad [PDF]

, 2017
Holger Guillermo Romo López, Pablo Xavier Garrido Gómez   +1 more
openalex  

[Effectiveness of a training program in the approach to gender-based violence in emergency professionals: A quasi-experimental study]. [PDF]

An Sist Sanit Navar
Adánez-Martínez MG, Pérez-Cánovas C, Leal-Costa C, Conesa Ferrer MB, Díaz-Agea JL, Jiménez Ruiz I.   +5 more
europepmc   +1 more source

RISM-España y la catalogación musical en los archivos de la Iglesia. (Una reflexión crítica y polémica ante los problemas existentes, y una propuesta de solución para el ámbito hispánico)

, 2008
Antonio Ezquerro Esteban
openalex   +1 more source

Temas para la reflexión. La evolución de la táctica

, 1999
Daniel José Vásquez Hincapié
openalex   +2 more sources

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Feasibility of Biology-guided Radiotherapy (BgRT) Targeting Fluorodeoxyglucose (FDG) avid liver metastases. [PDF]

Radiat Oncol
Chau B, Abuali T, Shirvani SM, Leung D, Al Feghali KA, Hui S, McGee H, Han C, Liu A, Amini A.   +9 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Outcomes of Radium-223 and Stereotactic Ablative Radiotherapy Versus Stereotactic Ablative Radiotherapy for Oligometastatic Prostate Cancers: The RAVENS Phase II Randomized Trial. [PDF]

J Clin Oncol
Wang JH, Sherry AD, Bazyar S, Sutera P, Radwan N, Phillips RM, Deek MP, Lu J, Dipasquale S, Deville C, DeWeese TL, Song DY, Wang H, Hobbs RF, Malek R, Dudley SA, Greco SC, Antonarakis ES, Marshall CH, Denmeade S, Paller CJ, Carducci MA, Pienta KJ, Oz OK, Ramotar M, Leenstra JL, Park SS, Abramowitz MC, Desai N, Berlin A, Stish BJ, Tang C, Tran PT, Kiess AP.   +33 more
europepmc   +1 more source