Results 121 to 130 of about 1,521,472 (318)

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

JUSTICES OF THE PEACE BEYOND NATIONAL BORDERS: A COMPARATIVE LEGAL STUDY

open access: yesПравовое государство: теория и практика
Every year the workload of the Russian judicial system increases, especially at the level of justices of the peace, which necessitates the search for effective models of organizing such judicial bodies.
NURMUKHAMETOV Ruslan Nailevich
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 more
wiley   +1 more source

ІНТОНАЦІЙНО-СИНТАКСИЧНІ ЗАСОБИ ВИРАЖЕННЯ СУБ’ЄКТНОСТІ ФРАНЦУЗЬКОГО РЕЧЕННЯ / INTONATION-SYNTACTICAL MEANS OF EXPRESSION OF THE FRENCH SENTENCE SUBJECTNESS

open access: yesАктуальні питання суспільних наук та історії медицини, 2016
Кутасевич Г. Интонационно-синтаксические средства выражения субъектности французского предложения. В статье рассмотрены интонационно-синтаксические средства французского языка, служащие для усиления субъектной позиции в предложении.
Галина КУТАСЕВИЧ
doaj  

Citation sentence reuse behavior of scientists: A case study on massive bibliographic text dataset of computer science [PDF]

open access: green, 2017
Mayank Singh   +5 more
openalex   +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

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