Results 141 to 150 of about 247,073 (223)

UM FOCO DE LEISHMANIOSE TEGUMENTAR NA ZONA SUL DO ESTADO DE SÃO PAULO, BRASIL

, 1957
Oswaldo Paulo Forratini, Octávio De Oliveira   +1 more
openalex   +2 more sources

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Lista remissiva dos Mamíferos do Brasil

, 1955
Vieira C. da Cunha
openalex   +1 more source

Urna comunidade rural de Brasil antigo. (Aspectos da vida patriarcal no sertão da Bahia nos sécalos XVIII e XIX) [PDF]

, 1958
Marvin Harris
openalex   +1 more source

Religiosidade no Brasil [PDF]

Estudos Avançados, 2013
openaire   +4 more sources

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Contribuição para o conhecimento dos ofídios do Brasil. A

, 1921
Afrânio do Amaral
openalex   +2 more sources

Trade Realignments and the Need for Integrated Modeling Research in Latin America's Agri‐Food Sector

Agribusiness, EarlyView.
Emiliano Lopez Barrera
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source