Results 121 to 130 of about 634,063 (347)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

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, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

The functional semantic properties of motion verbs from the documents of Don Cossack Host province offices of the 18th – 19th centuries

Ученые записки Казанского университета: Серия Гуманитарные науки, 2017
The study has been performed as part of the collective research project no. 16-14-34004 supported by the Russian Foundation for Basic Research and the Government of the Volgograd region.
O.A. Gorban
doaj  

Disambiguating verbs with multiple meaning in the MT-system of IBM Germany [PDF]

, 1969
István Bátori
openalex   +1 more source

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

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
wiley   +1 more source

Imiter Homère : sur la tmèse chez Apollonios de Rhodes

Aitia, 2020
Julia Del Treppo
doaj   +1 more source

Estudo das colocacións a través da análise de corpus: un estudo das colocacións co verbo galego 'caer' e o correspondente inglés 'to fall' [PDF]

Cadernos de Fraseoloxía Galega, 2004
O obxectivo deste traballo é facer unha análise comparativa das colocacións co verbo galego caer e o correspondente inglés to fall. Tal estudio está baseado na análise de frecuencias de coaparición deses verbos en dous córpora: o CORGA (Corpus de ...
Mª Carmen Paz Roca
doaj  

VeLeCa

Isogloss
This paper presents VeLeCa, a new resource on Catalan verbal inflection containing the phonological form of 174,200 word forms from 3,484 lexemes and their respective lexical and morphosyntactic values and frequencies.
Borja Herce, Bogdan Pricop
doaj   +1 more source

The Use of Verb Tenses in Subordinate Content Clauses in Czech

, 2022
Marta Koutová
openalex   +2 more sources

On the change to verb-medial word order in proto-Chinese : evidence from Tibeto-Burman [PDF]

, 2010
In attempting to reconstruct the morphosyntax of Proto-Sino-Tibetan, one of the most basic questions to be answered is what was the unmarked word order of the proto-language?
LaPolla, Randy J.
core  

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
wiley   +1 more source