Results 271 to 280 of about 1,071,560 (337)
Effects of relaxing one-child policy on high-risk pregnancy in China [PDF]
Xiaoming Yang, Yanhua Ning, Xin Wee Chen
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ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit +16 more
wiley +1 more source
High Risk Pregnancy and its Outcome in a Tertiary Care Hospital: A Descriptive Cross-sectional Study. [PDF]
Bhandari S +3 more
europepmc +1 more source
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
Doppler in High-Risk Pregnancy and Its Correlation With Feto-Maternal Outcomes: A Prospective Study. [PDF]
Pinki P, Amit A.
europepmc +1 more source
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
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 +10 more
wiley +1 more source
HIGH-RISK PREGNANCIES: NURSING INTERVENTIONS AND MANAGEMENT
Geeta K Malavad +2 more
openalex +2 more sources
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source

