Detalhe da pesquisa
1.
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Eur J Med Genet
; 69: 104943, 2024 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38679371
2.
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Nat Genet
; 19(1): 70-3, 1998 May.
Artigo
Inglês
| MEDLINE | ID: mdl-9590293
3.
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Nat Genet
; 20(2): 157-62, 1998 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-9771708
4.
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nat Genet
; 23(1): 94-8, 1999 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10471507
5.
Mutation analysis in 54 propionic acidemia patients.
J Inherit Metab Dis
; 35(1): 51-63, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22033733
6.
Propionic acidemia: neonatal versus selective metabolic screening.
J Inherit Metab Dis
; 35(1): 41-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22134541
7.
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Clin Genet
; 80(6): 550-7, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21155763
8.
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
J Med Genet
; 47(10): 704-9, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20577006
9.
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Clin Genet
; 77(3): 266-72, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20447141
10.
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
J Med Genet
; 46(8): 562-8, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19508970
11.
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
Klin Padiatr
; 222(3): 150-3, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20514618
12.
[The transition from pediatric care to the doctor and that of the adult, or the importance of "bridging the gap"]. / La transition entre la prise en charge en pédiatrie et celle chez le médecin de l'adulte, ou l'importance de bien "faire le pont".
Rev Med Suisse
; 11(462): 431-2, 2015 Feb 18.
Artigo
Francês
| MEDLINE | ID: mdl-25915982
13.
Mandibuloacral dysplasia type A in childhood.
Am J Med Genet A
; 149A(10): 2258-64, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19764019
14.
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
J Inherit Metab Dis
; 32(6): 713, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19821142
15.
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue.
Eur J Pediatr
; 168(9): 1141-5, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19104836
16.
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
J Med Genet
; 45(12): 827-31, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18708426
17.
[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome]. / Multiorganversagen bei Early-onset-B-Streptokokkensepsis: Erfolgreicher Einsatz einer kontinuierlichen venovenösen Hämofiltration (CVVH) beim Neugeborenen.
Klin Padiatr
; 221(4): 251-3, 2009.
Artigo
Alemão
| MEDLINE | ID: mdl-19199225
18.
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II.
Klin Padiatr
; 221(3): 174-5, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19437367
19.
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Hamostaseologie
; 29(2): 184-6, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19404516
20.
[Does prematurity affect adulthood?]. / La prématurité concerne-t-elle L'âge adulte?
Rev Med Suisse
; 10(418): 419-20, 2014 Feb 19.
Artigo
Francês
| MEDLINE | ID: mdl-24640275