Results 251 to 260 of about 585,047 (286)

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

Feeding challenges in early infancy: the role of reflexes, muscle tone, and developmental milestones. [PDF]

PeerJ
Kowalska W, Tuczyńska M, Kwiatkowski J, Komisarek O, Mojs E, Andrusiewicz M, Szczapa T, Samborski W, Sikorska D, Baum E, Malak R.   +10 more
europepmc   +1 more source

Severe disseminated tuberculosis complicated by polyneuropathy: a case report and literature review. [PDF]

BMC Infect Dis
Huang X, Pan L, Mao M, Pan X, Qiu J, Zou X, Bi D.   +6 more
europepmc   +1 more source

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

Speed Matters: Challenging the Notion of Velocity-Independent Rigidity Using Technological Devices in People with Parkinson's Disease: A Systematic Review. [PDF]

Neurol Int
Cano-de-la-Cuerda R, Estrada-Barranco C, Martín-Casas P, Marcos-Antón S, Ortiz-Gutiérrez RM, Laguarta-Val S, Jiménez-Antona C.   +6 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

Effectiveness of a Single Functional Neurology Intervention on Primitive Reflex Integration Dysfunction in Children. [PDF]

Clin Case Rep
Rey-Mota J, Escribano-Colmena G, Dalamitros AA, Martín-Caro Álvarez D, Clemente-Suárez VJ.   +4 more
europepmc   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Intraoperative Asystole during Thoracoscopic Left Lung Upper Lobectomy: A Case Report. [PDF]

Surg Case Rep
Sugimoto Y, Kanayama M, Kobayashi M, Nishizawa N, Chikaishi Y, Yasuda M, Tanaka F.   +6 more
europepmc   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source