Results 161 to 170 of about 184,621 (397)
Teratogenic effects of gabapentin on the skeletal system of Balb/C mice fetuses [PDF]
, 2009 Objectives: To evaluate the effects of gabapentin )GBP( administration on mice fetuses. Methods: This study was carried out in Birjand University of Medical Sciences during 2008.
Afshar, M. +4 more
core
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics, EarlyView.This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca +13 more
wiley +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, EarlyView.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Clinical Genetics, EarlyView.This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman +5 more
wiley +1 more source
Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms
Cell Proliferation, EarlyView.Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng +4 more
wiley +1 more source
The Significance of the Short Back Muscles: In Relation to Scoliosis from Poliomyelitis [PDF]
, 1936 Beatrice Woodcock
openalex +1 more source
Cost analysis of a growth guidance system compared with traditional and magnetically controlled growing rods for early-onset scoliosis: A US-based integrated health care delivery system perspective [PDF]
, 2018 Ackerman, Stacey J +4 more
core +2 more sources
The Development of Spinal Deformity in Experimental Scoliosis [PDF]
, 1965 Jarl‐Erik Michelsson
openalex +1 more source