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1.
Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
Am J Med Genet A
; 176(12): 2604-2613, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30380201
2.
A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents.
Front Endocrinol (Lausanne)
; 14: 1130580, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37033216
3.
Analysis of children with familial short stature: who should be indicated for genetic testing?
Endocr Connect
; 12(10)2023 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37561071
4.
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Eur J Pediatr
; 171(8): 1223-9, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22581207
5.
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Front Endocrinol (Lausanne)
; 13: 1102968, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36714562
6.
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.
Front Pediatr
; 9: 752878, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34805047
7.
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
J Clin Endocrinol Metab
; 106(6): 1742-1749, 2021 05 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33570564
8.
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31990356
9.
Genetic modifiers of liver disease in cystic fibrosis.
JAMA
; 302(10): 1076-83, 2009 Sep 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-19738092
10.
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
J Clin Endocrinol Metab
; 104(10): 4273-4281, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30753492
11.
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?â©.
Horm Res Paediatr
; 88(2): 160-166, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28253502
12.
Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study.
Eur J Health Econ
; 18(1): 73-82, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26743971
13.
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.
Horm Res Paediatr
; 86(5): 349-356, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27459301
14.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23276700
15.
PCR detection of Burkholderia cepacia complex as one of key factors to handle a long-term outbreak.
J Cyst Fibros
; 11(5): 440-5, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22622026
16.
Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
J Cyst Fibros
; 8(3): 224-7, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19208501
17.
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.
Skeletal Radiol
; 33(3): 157-64, 2004 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-14730409
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