Results 11 to 20 of about 1,206,149 (284)
Inherited cardiomyopathies. [PDF]
Behr, ER, Fanton, Z, Miles, C, Tome, M
core +4 more sources
التفسير بالمأثور عند الإمام ابن رجب الحنبلي من خلال تراجم صحيح البخاري [PDF]
يعالج هذا البحث المنهج الذي اتبعه الإمام ابن رجب الحنبلي في التفسير بالمأثور من خلال التراجم القرآنية التي عنون بها الإمام البخاري لأبواب كتبه في صحيحه، وذلك من خلال كتابه فتح الباري شرح صحيح البخاري، حيث يُعد من أهم الشروح الحديثية التي وصلت إلينا ...
شيرين محمد محمد أحمد
doaj +1 more source
Rationale & Objective: The identification of pathogenic variants in genes associated with chronic kidney disease can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans.
Michal Mrug +8 more
doaj +1 more source
On the Selection of Optimal Index Configuration in OO Databases [PDF]
An operation in object-oriented databases gives rise to the processing of a path. Several database operations may result into the same path. The authors address the problem of optimal index configuration for a single path. As it is shown an optimal index
Bertino, E. +3 more
core +3 more sources
De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
GATA1 is required for normal erythropoiesis. Exonic/intronic GATA1 mutations causes Diamond-Blackfan Anemia (DBA)-like disease. Herein, we present a case of a 5-year-old boy with anemia of unknown etiology. Whole-exome sequencing revealed a de novo GATA1
Shan Liu +10 more
doaj +1 more source
PurposeNearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated.
Yazhao Mei, Hao Zhang, Zhenlin Zhang
doaj +1 more source
Early cell biologists perceived centrosomes to be permanent cellular structures. Centrosomes were observed to reproduce once each cycle and to orchestrate assembly a transient mitotic apparatus that segregated chromosomes and a centrosome to each daughter at the completion of cell division.
openaire +2 more sources
Background: More than one-third of genetic conditions involve the eye. Young adults with visual impairments experience psychosocial implications throughout their lives.
Kalinka Popel +3 more
doaj +1 more source
Questions on the Structure of Perfect Matchings inspired by Quantum Physics [PDF]
We state a number of related questions on the structure of perfect matchings. Those questions are inspired by and directly connected to Quantum Physics.
Gu, Xuemei +2 more
core +2 more sources
Mutations in tubby like protein 1 gene (TULP1) are causative of early-onset recessive inherited retinal degenerations (IRDs); similarly, the Tulp1-/- mouse is also characterized by a rapid IRD.
Arpad Palfi +4 more
doaj +1 more source

