Results 101 to 110 of about 252,586 (336)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Hubungan Karakteristik Ibu Keluarga Miskin dengan Pemilihan Tempat Pemeriksa Kehamilan di Kecamatan Sulang Kabupaten Rembang Tahun 2006 [PDF]

, 2007
Background : The goal of maternal and antenatal care is to strengthen to improve access and to omprove maternal and child health status effectively and efficiency.
Mas’udah, M. (Mas’udah), Purnami, C. T. (Cahya)   +1 more
core  

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The utilization of antenatal care among rural-to-urban migrant women in Shanghai:a hospital-based cross-sectional study

BMC Public Health, 2012
Background Improving utilization of antenatal care is a critical strategy for achieving China’s Millennium Development Goal of decreasing the maternal mortality ratio (MMR). While overall utilization has increased recently in China, an urban vs.
Zhao Qi, Huang Zhihuan, Yang Sijia, Pan Jie, Smith Brian, Xu Biao   +5 more
doaj   +1 more source

A Multilevel Bayesian Markov Chain Monte Carlo Poisson Modelling of Factors Associated With Number of Components of Antenatal Care Offered Pregnant Women In Nigeria [PDF]

, 2021
Adeniyi Francis Fagbamigbe, Omon Stellamaris Fagbamigbe, Olugbenga Olaseinde, Oluwasomidoyin O. Bello, Vincent Setlhare, Jackline Nyaberi   +5 more
openalex   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

STANDAR KUANTITAS ANTENATAL CARE DAN SOSIAL BUDAYA DENGAN RISIKO ANEMIA PADA KEHAMILAN

, 2023
Mitra Mitra, Novita Yanti, Nurlisis Nurlisis, Oktavia Dewi, Hastuti Marllina   +4 more
openalex   +2 more sources

Pathways of the determinants of unfavourable birth outcomes in Kenya

, 2003
This paper explores the pathways of the determinants of unfavourable birth outcomes, such as premature birth, the size of the baby at birth, and Caesarean section deliveries in Kenya, using graphical loglinear chain models. The results show that a number
Diamond, Ian, Madise, Nyovani, Magadi, Monica, Smith, Peter   +3 more
core  

Antenatal Care [PDF]

BMJ, 1948
openaire   +4 more sources

Data set for manuscript "Optimal utilization of PMTCT of HIV services among adolescents under group versus focused antenatal care"

, 2022
AKUNZIRWE REBECCA
openalex   +1 more source