Results 111 to 120 of about 128,358 (156)

BEG7201 - Genética Humana Aplicada à Odontologia [PDF]

, 2016
BEG/CCB
core  

Erratum in: Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype. [PDF]

Invest Ophthalmol Vis Sci
europepmc   +1 more source

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant. [PDF]

Eur J Hum Genet
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM.   +14 more
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

Comparative analysis of PRR receptors and R genes reveals structural and functional divergence between wild, ancestral, and commercial citrus species. [PDF]

BMC Genomics
Dos Santos Menezes F, Silva RJS, Ollitrault P, Micheli F.   +3 more
europepmc   +1 more source

Early GH therapy and neurodevelopmental outcome in a child with compound heterozygous <i>IGF1R</i> variants. [PDF]

JCEM Case Rep
Sá Pinto M, Oliveira M, Ferrão T, Ramos F, Cardoso R, Leite AL.   +5 more
europepmc   +1 more source

La terapia genética: observaciones para una perspectiva ética [PDF]

, 1993
Ruiz-Pérez, G. (Gregorio)
core  

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]

Int J Mol Sci
Robles-Espinoza K, Esparza-García E, González García JR, Magaña-Torres MT.   +3 more
europepmc   +1 more source

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13). [PDF]

Case Rep Genet
D'Amato G, Gentile M, Carella R, Giannini A, Faienza MF, Tummolo A.   +5 more
europepmc   +1 more source

A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia. [PDF]

JBMR Plus
Laganà M, Grieco AM, Guarnieri V, Castori M, Pracella R, Giovinazzo S, Cannavò S, Ruggeri RM.   +7 more
europepmc   +1 more source