Results 121 to 130 of about 394,901 (310)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Ochrona praw oskarżonego poniżej 18. roku życia na tle nowelizacji Kodeksu postępowania karnego z 14 kwietnia 2023 r.

Acta Iuris Stetinensis
On 14 April 2023 the Sejm adopted the Act amending the act – Code of Criminal Procedure and certain other acts. The need for specific protection of defendants under the age of 18 was noticed by the European Union’s legislature over 10 years ago ...
Marcin Dziadkiewicz, Bartosz Fiłoc
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

The Investigation of the Effect of Feeds with Probiotic Additives on Growth and Functional State of Juvenile Steelhead Salmo (Salmo gairdneri)

Fishes
The research on the effect of feed with probiotic additives on the growth and functional state of young steelhead salmon (Salmo gairdneri) is presented in this study.
Elena N. Ponomareva, Marina N. Sorokina, Vadim A. Grigoriev, Mariya S. Mazanko, Vladimir A. Chistyakov, Dmitry V. Rudoy   +5 more
doaj   +1 more source

FY 2000 Juvenile Justice and Delinquency Prevention Act Compliance Monitoring Report [PDF]

, 2001
The Juvenile Justice and Delinquency Prevention Act (JJDPA) mandates removal of status offenders and nonoffenders from secure detention and correctional facilities, sight and sound separation of juveniles and adults, and removal of juveniles from adult ...
Atwell, Cassie, Curtis, Richard W., Lepine, Brian, Schafer, N. E.   +3 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Sternes réprises en Côte d'Ivoire au cours des derniers hivernages des années 1969-1970-1971-1972-1973 [PDF]

, 1974
Data are reported on: (1) date and place of ringing the juveniles and adults of the sea bird of the genus Sterna in Côte d'Ivoire, and (2) date and place of recapture during the winter periods of 1969, 1970, 1971, 1972 ...
Intés, A.
core  

Juvenility and the Juvenile Transition [PDF]

, 2011
Del Giudice Marco, Angeleri R., Manera V.   +2 more
openaire   +5 more sources

Stakeholder Perspectives on Therapeutic and Safe Building Design in Residential Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Residential care is a form of out‐of‐home care that plays a critical role in supporting vulnerable young people in Australia. However, there is an evidence gap regarding the built environment in this context. This research aimed to explore the perspectives of key stakeholders in residential care in Victoria, Australia, regarding design that ...
Carmen Schroder, Olivia Crivari, Phillippa Carnemolla, Libby Callaway   +3 more
wiley   +1 more source

Policing Chicago Public Schools: A Gateway to the School-to-Prison Pipeline [PDF]

, 2012
"Policing Chicago Public Schools: A Gateway to the School-to-Prison Pipeline" relies on data from the Chicago Police Department (CPD) to show (for the first time in seven years) the type of offenses and the demographics (gender, age and race) of the ...
Frank Edwards, Mariame Kaba
core