Results 51 to 60 of about 88,404 (304)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

„Zamknij drzwi”, czyli wykorzystanie przestrzeni filmowej do uobecnienia sacrum na przykładzie filmu Sieranevada Cristi Puiu

open access: yesImages, 2020
The article analyzes how the main representative of the Romanian New Wave – Cristi Puiu – uses the visual space of an apartment for staging and presenting the visible and hidden spheres of reality.
Krystian Przybylski
doaj   +1 more source

Is a low sacral ratio associated with primary vesicoureteral reflux in children? [PDF]

open access: yes, 2013
Introduction: The association of sacral anomalies with fecal incontinence and lower urinary tract dysfunction is known. The sacral ratio is proposed as a tool for evaluation of sacral development. The aim of this cross-sectional study was to evaluate the
Esfahani, S.T.   +2 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Miłość do Boga w wybranych tekstach staropolskich dla licealistów. Refleksje na marginesie podręczników do kształcenia kulturowo-literackiego dla szkół średnich

open access: yesSeminare, 2022
Problematyka realizacji egzystencji ludzkiej w sferze sacrum zajmuje szczególne miejsce w dorobku literackim wieków dawnych. Celem artykułu jest budowanie namysłu wokół obrazu miłości do Boga utrwalonego w poezji dawnej, omawianej na lekcjach języka ...
Maria Stachoń
doaj   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Misterium sztuki. O „Pamiętniku znalezionym w Saragossie” Wojciecha J. Hasa

open access: yesKwartalnik Filmowy, 2004
Autorka analizuje film Wojciecha J. Hasa Rękopis znaleziony w Saragossie w kontekście sztuki rozumianej jako sacrum, jako dziedzina w której człowiek dostępuje swoistego zbawienia.
Iwona Grodź
doaj   +1 more source

Morphometric Analysis Sacral Hiatus of Dry Scapula in Iranian Population

open access: yesArchives of Anesthesia and Critical Care, 2022
Background: Caudal epidural block (CEB) has been widely used to treat lumbar spine disorders, to manage chronic low back pain, and to provide analgesia and anesthesia in operations such as labor pain and orthopedic and genital surgeries.
Parvindokht Bayat, Ali Khosrobeigi
doaj   +1 more source

DeepWalking: Enabling Smartphone-based Walking Speed Estimation Using Deep Learning

open access: yes, 2018
Walking speed estimation is an essential component of mobile apps in various fields such as fitness, transportation, navigation, and health-care. Most existing solutions are focused on specialized medical applications that utilize body-worn motion ...
Shrestha, Aawesh, Won, Myounggyu
core   +1 more source

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