Detalhe da pesquisa
1.
Refining the phenotype associated with biallelic DNAJC21 mutations.
Clin Genet
; 94(2): 252-258, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700810
2.
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
Clin Genet
; 85(5): 476-81, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692385
3.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
J Med Genet
; 47(6): 377-84, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522426
4.
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
Am J Med Genet A
; 149A(10): 2141-6, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19764023
5.
Oribatid mite communities in the canopy of montane Abies amabilis and Tsuga heterophylla trees on Vancouver Island, British Columbia.
Environ Entomol
; 37(2): 464-71, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18419918
6.
An Exploratory Study of Acculturation and Reproductive Health Among Haitian and Haitian-American Women in Little Haiti, South Florida.
J Immigr Minor Health
; 18(3): 666-672, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087716
7.
An isotopic study of the effect of dietary carbohydrate on the metabolic fate of dietary leucine and phenylalanine.
Am J Clin Nutr
; 57(2): 161-9, 1993 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-8424384
8.
Branched-chain amino acid interactions with reference to amino acid requirements in adult men: valine metabolism at different leucine intakes.
Am J Clin Nutr
; 54(2): 395-401, 1991 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-1858703
9.
Branched-chain amino acid interactions with reference to amino acid requirements in adult men: leucine metabolism at different valine and isoleucine intakes.
Am J Clin Nutr
; 54(2): 402-7, 1991 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-1858704
10.
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
J Med Genet
; 39(11): 849-51, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12414827
11.
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
Ophthalmic Genet
; 31(4): 205-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21067481
12.
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.
Ophthalmic Genet
; 31(1): 47-51, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20141359
13.
Functional localization in the trigeminal root.
J Neurosurg
; 40(4): 504-13, 1974 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-4205320
14.
Vocal fold medialization: which are the available fillers in France in 2010?
Eur Ann Otorhinolaryngol Head Neck Dis
; 128(2): 99-101, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21292585
15.
Adaptation to high protein intakes, with particular reference to formula feeding and the healthy, term infant.
J Nutr
; 119(12 Suppl): 1799-809, 1989 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-2693638
16.
Excretion and synthesis of basement membrane disaccharide units in Masugi nephritis.
Kidney Int
; 16(3): 329-36, 1979 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-529679
17.
Mites in forest canopies: filling the size distribution shortfall?
Annu Rev Entomol
; 44: 1-19, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-15012369
18.
Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.
J Pediatr
; 108(1): 61-5, 1986 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-3080572
19.
[Urinary excretion and biosynthesis of disaccharide units of the glomerular basement membrane in Masugi's nephritis (proceedings)]. / Excrétion urinaire et biosynthèse des unités disaccharidiques de la membrane basale glomérulaire au cours de la néphrite de Masugi.
J Urol Nephrol (Paris)
; 85(4-5): 324, 1979.
Artigo
em Francês
| MEDLINE | ID: mdl-480437