Results 141 to 150 of about 271,109 (318)

Rencontre CFDT - Brochure du 22/11/23 [PDF]

Itinéraires improbables de salarié.e.s de Lip - Besançon, 22 novembre 2023 - CFDT 2 A l’occasion des cinquante ans de Lip 73, la CFDT a pris l’initiative d’une Rencontre mettant en valeur les itinéraires de Lips au-delà de la période qui avait soulevé,
Mélanie Edeline
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Construction of columellar strut using allogenic dermis for secondary cleft lip nasal deformity [PDF]

, 2017
Rhinoplasty of cleft lip patients is often unsatisfactory because of problems resulting from cartilage weakness and shortness of the columella. The columella must have a balanced position in relation to the adjacent alar rim and edial crura. Construction
이용빈, 정영수, 정휘동
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The threat of an embodied virtual belly affects gastric feelings depending on somatic, interoceptive and alexithymic characteristics of healthy women

Scientific Reports
Gastric feelings are often studied using invasive stimulations changing the stomach state and overlooking how context and personality traits shape these sensations.
Rudy Jeanne, Louise Dupraz, Jessica Bourgin, Pascal Hot, Sonia Pellissier, Astrid Kibleur   +5 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Social cognition, psychosocial development and well-being in galactosemia

Orphanet Journal of Rare Diseases
Background Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry, Klervi Propice, Jessica Bourgin, Morgane Métral   +3 more
doaj   +1 more source

Lip Feature Disentanglement for Visual Speaker Authentication in Natural Scenes [PDF]

Recent studies have shown that lip shape and movement can be used as an effective biometric feature for speaker authentication. By using random prompt text scheme, lip-based authentication system can also achieve good liveness detection performance in ...
He, Yi, Wang, Shilin, Yang, Lei, Liew, Alan Wee-Chung   +3 more
core   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source