Stature, Short En

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Stature, Small Small stature Short stature

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Psychologie (4) Histoire (3) Archéologie et Préhistoire (3) Anthropologie biologique (3) Histoire, Philosophie et Sociologie des sciences (2) Gestion et management (2) Economies et finances (2) Architecture, aménagement de l'espace (2) Etudes sur le genre (1)

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Articles (23) Livres et chapitres d'ouvrages (4) Recensions (1)

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27 documents
Le titre du document n'a pas été fourni à ISIDORE, pour consulter le document, cliquez ici
(1 déc. 2023)
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
Claudia M. Bonardi et al. (2023)
Le titre du document n'a pas été fourni à ISIDORE, pour consulter le document, cliquez ici
(12 août 2022)
Le titre du document n'a pas été fourni à ISIDORE, pour consulter le document, cliquez ici
(12 févr. 2021)
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
C. Kumps et al. (14 avr. 2020)
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
S. Mizumoto et al.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
V.G. Peter et al.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
S.G. Caraffi et al. (12 oct. 2019)
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
J. Tommiska et al. (3 nov. 2017)
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.
M. Capurro et al. (4 sept. 2017)
Killing Cats in the Medieval Period: An Unusual episode in the history of Cambridge, England
Rosemary M. Luff et al. (3 août 2017)
Current Care and Investigational Therapies in Achondroplasia.
S. Unger et al.
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
P. Makrythanasis et al. (2016)
Biological Costs of a Small Stature for Homo sapiens Females: New Perspectives on Stature Sexual Dimorphism
Priscille Touraille (9 oct. 2015)
Health-Related Quality of Life of Young Adults Treated with Recombinant Human Growth Hormone during Childhood.
G. Sommer et al. (2015)
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.
L. Monti et al. (2015)
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
G. Borck et al. (2015)
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
R. Genesio et al. (2015)
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
C. Meazza et al. (2013)
Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report
C. Ferrario et al. (2013)
Assessment of Intellectual and VisuoSpatial Abilities in Children and Adults with Williams Syndrome
M M Nunes et al. (2013)
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
L. Micale et al. (2011)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
S. Allali et al. (2011)
Identification of alternate dwarfing gene sources to widely used Dee-Gee-Woo-Gen allele of sd1 gene by molecular and biochemical assays in rice (Oryza sativa L.)
Chirravuri Naga Neeraja et al. (1 juil. 2009)
Familial deletion 18p syndrome: case report
Bruno Maranda et al. (5 janv. 2007)

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