Results 221 to 230 of about 189,003 (339)

Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis. [PDF]

Commun Biol
Li X, Gao Y, Cheng T, Lin J, Lou S, Wang L, Mi C, Ding X, Du M, Pan Y.   +9 more
europepmc   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly

, 1964
B Gans
openalex   +1 more source

Cleft Lip and Palate [PDF]

Proceedings of the Royal Society of Medicine, 1962
openaire   +3 more sources

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

NASAL LEAKAGE OF THE AIR FLOW IN CLEFT PALATE SPEECH

, 1964
Shigeru Sugiura, Masayuki Sawashima
openalex   +2 more sources

The Rate of Secondary Speech Surgery After Cleft Palate Repair: A Systematic Review. [PDF]

Plast Reconstr Surg Glob Open
Plonkowski AT, Choi DG, Naidu P, Turk M, Yao CA, Magee WP.   +5 more
europepmc   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Cleft Palate Workshop and Registry at The New York Hospital-Cornell Medical Center, December 24, 1964

, 1965
NULL AUTHOR_ID
openalex   +1 more source

Surgical management of congenital bifid tongue with associated cleft palate, tongue and palatal hamartoma: A rare case report. [PDF]

JPRAS Open
Adil A, Bhandari BM, Ayub A.
europepmc   +1 more source