Results 191 to 200 of about 73,873 (328)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Surgical procedures for nasal deformity in patients with cleft lip and palate. [PDF]

open access: yesFujita Med J
Inoue Y   +4 more
europepmc   +1 more source

Discovery of sexual dimorphism of the laryngeal sac in the common minke whale Balaenoptera acutorostrata

open access: yesThe Anatomical Record, Volume 309, Issue 2, Page 397-416, February 2026.
Abstract Mysticetes, or baleen whales, have an air sac on the ventral surface of the larynx known as the “laryngeal sac.” The primary hypothesis regarding this structure's function is that it is involved in sound production. However, several other functions have been proposed, including air recycling, air storage, and even buoyancy control.
Gen Nakamura   +7 more
wiley   +1 more source

Cleft Lip and Palate Digital Impression Workflow. [PDF]

open access: yesPlast Reconstr Surg Glob Open
Nalabothu P   +3 more
europepmc   +1 more source

Orthodontic Appliance‐Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders

open access: yesClinical and Experimental Dental Research, Volume 12, Issue 1, February 2026.
ABSTRACT Objectives In craniofacial disorders (CD) like cleft lip and/or palate (CL/P), Robin sequence (RS) or Down syndrome (DS), an early orthodontic intervention with different palatal plate devices is often applied. However, there are no data on complications such as mucosal ulcerations (MU).To determine the frequency and location of MU and ...
Christina Weismann   +9 more
wiley   +1 more source

Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia. [PDF]

open access: yesFront Public Health
Rabah SM   +17 more
europepmc   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

open access: yesgenesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu   +10 more
wiley   +1 more source

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