Results 111 to 120 of about 4,536 (293)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold   +6 more
wiley   +1 more source

Sosiaalisten innovaatioiden Suomi

open access: yesEnnen ja Nyt: Historian Tietosanomat, 2018
Taipale, Ilkka (toim.): Sata innovaatiota Suomesta: Kuinka Suomesta tuli Suomi — poliittisia, sosiaalisia ja arkipäivän keksintöjä. Into Kustannus Oy, Helsinki. 2017. 332 s.
openaire   +2 more sources

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

William T. McKinney, Jr., MD 1937-2022. [PDF]

open access: yesNeuropsychopharmacology, 2023
Kramer DA, Suomi SJ.
europepmc   +1 more source

Forest Area and Structural Variable Estimation in Boreal Forest Using Suomi NPP VIIRS Data and a Sample from VHR Imagery [PDF]

open access: gold, 2023
Tuomas Häme   +8 more
openalex   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf   +2 more
wiley   +1 more source

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