Results 201 to 210 of about 4,256,926 (340)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong   +10 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Nurturing Care Systems Underlying Early Childhood Food Insecurity in Brazil: A Causal Loop Diagram Approach. [PDF]

open access: yesMatern Child Nutr
Buccini G   +5 more
europepmc   +1 more source

A Conversation with Alexandra Navrotsky

open access: yesACS Central Science
Rachel Brazil
doaj   +1 more source

The dispersion of Lutzomyia longipalpis in urban areas

open access: yesRevista da Sociedade Brasileira de Medicina Tropical, 2013
Reginaldo Pecanha Brazil
doaj   +1 more source

Antioxidant activities and phenolic compounds of raw and cooked Brazilian pinhão (Araucaria angustifolia) seeds

open access: diamond, 2012
Eloá Angélica Koehnlein   +7 more
openalex   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

Brazil's health tax at a crossroads: safeguarding the constitutional victory against ultra-processed foods. [PDF]

open access: yesLancet Reg Health Am
Neves FS   +9 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy