Results 231 to 240 of about 629,434 (391)

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

American 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, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Seroprevalence of <i>Coxiella burnetii</i> in Goats from Central and Western Thailand: Implications for Zoonotic Disease Surveillance and Control. [PDF]

Vet Sci
Ratanapob N, Lertwatcharasarakul P, Jala S, Pangjai D, Vongtongsalee K, Rukkwamsuk T.   +5 more
europepmc   +1 more source

Herding to Market Consensus: An Empirical Investigation of its Presence in Nepal Stock Exchange

, 2022
Aman Rijal
openalex   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Preparation for a potential outbreak of bluetongue virus in Ireland: surveillance design to estimate local prevalence after an initial case detection. [PDF]

Ir Vet J
Casey-Bryars M, Tratalos JA, Madden JM, McGrath G.   +3 more
europepmc   +1 more source

Urea in Bulk Milk as Compared to the Herd Mean of Urea in Blood

, 1983
A. O. Refsdal
openalex   +2 more sources

Herding

, 2008
Το κάθε αμοιβαίο κεφάλαιο έχει μια ομάδα διαχείρισης, η οποία παίρνει αποφάσεις για την επιλογή των αξιόγραφων που θα συμπεριληφθούν στο χαρτοφυλάκιο του, καθώς και για την ενεργητική διαχείριση των αξιόγραφων αυτών. Έχει παρατηρηθεί ότι για διάφορους λόγους οι διαχειριστές ακολουθούν κοινή συμπεριφορά όσον αφορά τις αποφάσεις τους. Σκοπός της εργασίας
openaire   +1 more source

Combining ToF‐SIMS and Multivariate Analysis to Resolve Active Sites on Ni‐Based HER Catalysts

Angewandte Chemie, EarlyView.
Time‐of‐flight secondary ion mass spectrometry (ToF‐SIMS), combined with principal component analysis (PCA) and multivariate curve resolution (MCR), disentangles ultrathin mixtures of Ni, NiO, and Ni(OH)2 on model Ni electrodes. By revealing a hydroxide‐specific ion marker linked to hydrogen evolution reaction (HER) activity, the method offers a new ...
Matjaž Finšgar, Katja Andrina Varda, Dzevad K. Kozlica, Matej Huš, Milena Martins, Dušan Strmčnik   +5 more
wiley   +2 more sources

Integrating whole-genome sequencing and epidemiology to characterise Mycobacterium bovis transmission in Ireland: a proof of concept. [PDF]

Ir Vet J
Harvey N, McGrath G, O'Shaughnessy J, Tratalos JA, Byrne B, Allen A, Skuce R, Kenny K, Gordon SV, Farrell D.   +9 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source