Detalhe da pesquisa
1.
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Am J Med Genet A
; 176(1): 187-193, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29160006
2.
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
Am J Med Genet A
; 188(1): 382-383, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562059
3.
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Genet Med
; 23(11): 2223-2224, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234302
4.
The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
Children (Basel)
; 11(5)2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790573
5.
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Neuropediatrics
; 43(1): 37-43, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430159
6.
Townes-Brocks syndrome with craniosynostosis in two siblings.
Eur J Med Genet
; 65(12): 104642, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252910
7.
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Genes (Basel)
; 13(7)2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886058
8.
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
Eur J Med Genet
; 64(2): 104136, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33444820
9.
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity.
Horm Res Paediatr
; 94(7-8): 251-262, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34482307
10.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
; 29(9): 1405-1417, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603160
11.
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Rheumatology (Oxford)
; 49(6): 1056-62, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20299379
12.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Orphanet J Rare Dis
; 15(1): 201, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758259
13.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Hum Mutat
; 30(3): E500-19, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19105190
14.
Cannonball-Like Lung Nodules in a Patient With a Colorectal Tumor.
Chest
; 156(4): e85-e89, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31590720
15.
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
Eur J Med Genet
; 62(10): 103727, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326520
16.
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.
Eur J Med Genet
; 56(8): 404-10, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23791568