Results 111 to 120 of about 257,342 (385)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Temperature Influence on Fermentation Speed and Organoleptic Beer Properties.

open access: yesKvasný průmysl, 2004
The objective of this work was to study temperature changes during the process of primary and secondary fermentation and their effect on fermentation speed, foam stability and organoleptic properties of beer.
Gabriela ŠEPEĽOVÁ   +2 more
doaj   +1 more source

Probing the in-mouth texture perception with a biomimetic tongue [PDF]

open access: yesarXiv, 2019
An experimental biomimetic tongue-palate system has been developed to probe human in-mouth texture perception. Model tongues are made from soft elastomers patterned with fibrillar structures analogue to human filiform papillae. The palate is represented by a rigid flat plate parallel to the plane of the tongue. To probe the behavior under physiological
arxiv  

Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate. [PDF]

open access: yes, 2011
BACKGROUND: Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without ...
Bessell, A   +5 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

Liquid Scorecards [PDF]

open access: yesarXiv, 2020
Traditional credit scorecards are generalized additive models (GAMs) with step functions as the component functions. The shapes of the step functions may be constrained in order to satisfy the PILE (Palatability, Interpretability, Legal, Explain-ability) constraints.
arxiv  

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

Harpur Palate, Volume 2 Number 1, Summer 2002 [PDF]

open access: yes, 2002
Contributors: Bruce Holland Rogers | Mark Rudolph | Luivette Resto | Paul Michel | Tony Medina | Sara Johnson | William P. Robertson | Alison Hoffmann | Justin Stanchfield | Lory Bedikian | Benjamin Vogt | Darrin Doyle | Katherine McCord | Shari R ...
., Harpur Palate
core   +1 more source

Visualizing Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm   +2 more
wiley   +1 more source

Harpur Palate, Volume 4 Issue 2, Winter 2005 [PDF]

open access: yes, 2005
Contributors: Gail Waldstein | Ryan G. Van Cleave | John W. Evans | J. Lorraine Brown | Maria Fire | Roy Kesey | Marvin Bell | George Tucker | Stan Sanvel Rubin | Kara D\u27Angelo | Travis Gearhart | Lee K.
., Harpur Palate
core   +1 more source

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