Results 261 to 270 of about 1,176,085 (362)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Bisphenol A and human fertility: a systematic review. [PDF]

open access: yesJBRA Assist Reprod
Isa CPM   +9 more
europepmc   +1 more source

The experience of a multidisciplinary team in maintaining fertility in oncohematological patients

open access: diamond
A. Yu. Kishkina   +13 more
openalex   +2 more sources

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

Fertilization 2: Polyspermic Fertilization

open access: yesFertilization 2: Polyspermic Fertilization
During fertilization in animals, a haploid egg nucleus fuses with a haploid sperm nucleus to restore the diploid genome. In most animals including mammals, echinoderms, and teleostei, the penetration of only one sperm into an egg is ensured at fertilization because the entry of two or more sperm is prevented by polyspermy block systems in these eggs ...
openaire  

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”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

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