Results 141 to 150 of about 7,265 (207)

Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A Using COLD-PCR Combined with HRM Genotyping Analysis from Maternal Serum [PDF]

, 2012
Broca Martínez, María Teresa, Guerrero Montávez, Juan Miguel, Macher, Hada, Rubio Calvo, Amalia Macarena   +3 more
core   +1 more source

The effect of long‐continued heterozygosis on a variable character in Drosophila [PDF]

Journal of Experimental Zoology, 1917
Walter W. Marshall, Hermann J. Muller
openaire   +1 more source

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. [PDF]

Open Life Sci
He J, Zhang S, Kang Y, Zhang Y, Zheng Z, Ruan M.   +5 more
europepmc   +1 more source

<i>BRAT1</i> gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report. [PDF]

Front Pediatr
Qin DY, Tang QQ, Feng D, Song YJ, Cheng ZH, Ma RC, Sun K, Wang F.   +7 more
europepmc   +1 more source

Familial mediterranean fever and pauciimmune renal vasculitis: the role of IL-1 blockade (Anakinra) [PDF]

, 2011
MS Lovillo, E Iglesias, O Neth, V Santa-María, A Sánchez, J Bernabeu   +5 more
core   +2 more sources

Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients. [PDF]

Orphanet J Rare Dis
Yang J, Li K, Liu F, Kong L, Liu Y, She F, He R, Lv T, Liu F, Zhang P.   +9 more
europepmc   +1 more source

New polymorphisms of Vkork1 gene related to anticoagulant resistance of rats and mice in Italy. [PDF]

Pest Manag Sci
Reggiani A, Rugna G, Polverini E, Veronesi R, Bellini R, Venturelli C, Dini FM, Galuppi R, Pampiglione G, Dottori M, Carra E.   +10 more
europepmc   +1 more source

Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a <i>WNT1</i> Pathogenic Variation. [PDF]

JCEM Case Rep
Cavalcanti Matos T, Kistemann Gonçalves Dias M, Franco AS.   +2 more
europepmc   +1 more source

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep
Giannoni A, Modena M, Montuoro S, Bonanni F, Grigoratos C, Barison A, Todiere G, Rossi A, Vittorini S, Emdin M, Botto N.   +10 more
europepmc   +1 more source

Chromosome-level genome assembly of bivalve mollusk, Xishishe Coelomactra antiquata. [PDF]

Sci Data
Wang S, Sun Y, Bai Y, Li H, Li D, Liu X, Xie X, Teng W, Yu Z, Zhou Z, Wang Q.   +10 more
europepmc   +1 more source