Results 71 to 80 of about 70,536 (316)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
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, 1998 Polyvalent verbs can be combined with different sets of complements. The variation concerns both number and type of the complements. In most grammar theoretical frameworks, verbs are of crucial importance for the syntactic structure and semantic interpretation of clauses.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
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Frontiers in PsychologyThe dynamics of information transmission through the lexical system during written word production remain underspecified. Existing studies largely come from noun production, relatively less work has explored verb production.
Xuebing Zhu
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«And to fly up as fast as down»: the component «speed» in metaphorizing the sphere of motion (on the basis o the verbs of motion in Russian dialects) [PDF]
, 2013 Luiza Vasilievna Nadeina
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, 1994 Contains fulltext : 4217.pdf (Publisher’s version ) (Open Access)
Muysken, P.C., Veenstra, T.
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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Implicit multiple exponence in Modern Greek verbs
Zeitschrift für Wortbildung, 2019 Multiple exponence in morphology has recently attracted a good deal of attention (see, among others, Harris 2017; Caballero & Inkelas 2018). In this paper, I examine Modern Greek verbs which take an extra verbalizer (implicit multiple exponence).
Nikos Koutsoukos
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Complex Events in the Serial Verb Constructions in Vietnamese: A Cognitive Perspective
, 2023 Ly Ngoc Toan
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
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