Results 161 to 170 of about 1,234,978 (308)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

The Stability of Oral Language Profiles of Children in the Early Years of School: A Longitudinal Comparison of Multidimensional and Cut-Point Approaches to Classification. [PDF]

Int J Lang Commun Disord
Taylor AL, Leitão S, Smart S, Wheldall R, Claessen M, Vanluydt E, Boyes ME.   +6 more
europepmc   +1 more source

In Prototypical Autism, the Genetic Ability to Learn Language Is Triggered by Structured Information, Not Only by Exposure to Oral Language. [PDF]

Genes (Basel), 2021
Mottron L, Ostrolenk A, Gagnon D.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Solitary Screen Time Exacerbates Later Socioemotional Problems in Young Children with Oral Language Difficulties. [PDF]

Res Child Adolesc Psychopathol
Selover M, Leggett-James MP, Højen A, Bleses D, Laursen B.   +4 more
europepmc   +1 more source

Evidence of changes in the oral language in children born full-term and small for gestational age: a systematic review. [PDF]

Rev Paul Pediatr, 2022
Rios NVF, Fernandes LDC, Andrade CLO, Magalhães LPF, Santiago AC, Alves CAD.   +5 more
europepmc   +1 more source

Oral language modifiers focus group [PDF]

, 2008
Carvalho, Fatima Lampreia
core  

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Phonological processing, oral language abilities, and reading comprehension in children with cochlear implants. [PDF]

Sci Rep
Camarata S, Lighterink M, Sunderhaus L, Labadie R, Gifford R.   +4 more
europepmc   +1 more source

Influences of individual, text, and assessment factors on text/discourse comprehension in oral language (listening comprehension). [PDF]

Ann Dyslexia, 2021
Kim YG, Petscher Y.
europepmc   +1 more source