Found: 13
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Has the Prevalence of Congenital Abnormalities after Intracytoplasmic Sperm Injection Increased? The Leuven Data 1994–2000 and a Review of the Literature.
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- Gynecologic & Obstetric Investigation, 2010, v. 70, n. 1, p. 11, doi. 10.1159/000279323
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- Article
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
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- Journal of Human Genetics, 2012, v. 57, n. 4, p. 277, doi. 10.1038/jhg.2012.1
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- Article
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.
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- Scientific Reports, 2015, v. 5, n. 1, p. 17667, doi. 10.1038/srep17667
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- Article
Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0054977
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- Article
Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038579
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- Article
Precocious Pubarche, Hyperinsulinism, and Ovarian Hyperandrogenism in Girls: Relation to Reduced Fetal Growth.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 10, p. 3558, doi. 10.1210/jcem.83.10.5205
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- Article
CLINICAL REVIEW 89: Small as Fetus and Short as Child: From Endogenous to Exogenous Growth Hormone.
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- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 7, p. 2021, doi. 10.1210/jc.82.7.2021
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- Article
Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1029, doi. 10.1038/sj.ejhg.5201881
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- Article
Detailed studies of growth hormone secretion in cystinosis patients.
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- Pediatric Nephrology, 2012, v. 27, n. 11, p. 2123, doi. 10.1007/s00467-012-2213-x
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- Article
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
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- 2016
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- Publication type:
- Case Study
Insulin Sensitivity Modulates the Growth Response during the First Year of High-Dose Growth Hormone Treatment in Short Prepubertal Children Born Small for Gestational Age.
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- Hormone Research in Paediatrics, 2012, v. 78, n. 1, p. 24, doi. 10.1159/000339829
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- Article
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
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- Genes, Chromosomes & Cancer, 2010, v. 49, n. 3, p. 242, doi. 10.1002/gcc.20735
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- Article
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
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- Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9470
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- Article