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1.
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Genet Med
; 20(1): 109-118, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726805
2.
Two novel deletions in hypotonia-cystinuria syndrome.
Mol Genet Metab
; 107(3): 614-6, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22796000
3.
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
J Hum Genet
; 57(4): 277-9, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22277900
4.
Detailed studies of growth hormone secretion in cystinosis patients.
Pediatr Nephrol
; 27(11): 2123-2127, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22664570
5.
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes Chromosomes Cancer
; 49(3): 242-52, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19953625
6.
Has the prevalence of congenital abnormalities after intracytoplasmic sperm injection increased? The Leuven data 1994-2000 and a review of the literature.
Gynecol Obstet Invest
; 70(1): 11-22, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20110727
7.
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
J Allergy Clin Immunol
; 134(5): 1209-13.e6, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25042743
8.
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Hum Mutat
; 28(1): 97-8, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17154279
9.
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Eur J Hum Genet
; 15(10): 1029-33, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17579669
10.
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
Horm Res Paediatr
; 85(4): 288-90, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26741373
11.
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.
Sci Rep
; 5: 17667, 2015 Dec 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26631348
12.
Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment.
J Clin Endocrinol Metab
; 88(1): 34-7, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12519825
13.
Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
PLoS One
; 8(2): e54977, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23457457
14.
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.
Horm Res Paediatr
; 78(1): 24-30, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22832126
15.
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
PLoS One
; 7(6): e38579, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22679513
16.
Psychosocial functioning, self-perception and body image and their auxologic correlates in growth hormone and oestrogen-treated young adult women with Turner syndrome.
Horm Res
; 66(6): 277-84, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16946621
17.
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
Am J Hum Genet
; 78(1): 38-51, 2006 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-16385448
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