THE MAIN DIRECTIONS IN THE COMPLEX REHABILITATION OF CHILDREN WITH CLEFT LIP AND PALATE
, 2013 Yulia Vladimirovna Stepanova +1 more
openalex +2 more sources
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 +9 more
wiley +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
A longitudinal three-center study of craniofacial morphology at 6 and 12 years of age in patients with complete bilateral cleft lip and palate [PDF]
, 2011 Theodosia Bartzela +7 more
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Risk of inappropriate fixation position for patients with cleft lip and palate after head and neck extension [PDF]
, 2023 Masanori Tsukamoto +4 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Cleft lip and palate: understanding genetic and environmental influences
Nature reviews genetics, 2011 M. Dixon +3 more
semanticscholar +1 more source
Fate of native and introduced seeds consumed by captive white-lipped and collared peccaries (Tayassu pecari, Link 1795 and Pecari tajacu, Linnaeus 1758) in the Atlantic rainforest, Brazil [PDF]
, 2010 Louis Lazure +3 more
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Angewandte Chemie, EarlyView.A low‐density, nonfluorinated moderately solvating electrolyte (MSE) composed of methyl tert–butyl ether concurrently tunes Li+ and polysulfide solvation, lowering desolvation barrier and mitigating polysulfide shuttling. It effectively stabilizes both electrodes and enables stable cycling of Li–S batteries under practical parameters at room ...
Tianxing Lai +2 more
wiley +2 more sources
A rare case of syphilis with primary complex in the lip and submaxillary region.
, 1990 Yasuo HANAZAWA +7 more
openalex +2 more sources