Results 141 to 150 of about 811,999 (329)

Open lip schizencephaly - large

, 2013
Yusra Sheikh
openalex   +1 more source

Comparison of acromio-axillo-suprasternal notch index with upper lip bite test and ratio of height to thyromental distance for prediction of difficult intubation: a prospective study

, 2020
Juhi Bhaktavar, Poonam Gupta
openalex   +2 more sources

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Amelogenin gene influence on enamel defects of cleft lip and palate patients

, 2018
Fernanda Veronese de Oliveira, Thiago José Dionísio, Lucimara Teixeira das Neves, María Aparecida de Andrade Moreira Machado, Carlos Ferreira Santos, Thaís Marchini de Oliveira   +5 more
openalex   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

Double localization of keratoacanthoma on the cutaneous and mucosal sides of the lower lip: report of a case

, 2013
Maria Paola Cristalli
openalex   +2 more sources

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Distal femoral morphology as a risk factor for osteoarthritis

The Anatomical Record, EarlyView.
Abstract Osteoarthritis (OA) is a leading cause of disability affecting millions of adults in the United States, commonly resulting in the need for total knee arthroplasty (TKA) to restore mobility and quality of life. This study investigates potential differences in baseline distal femoral shape between individuals who received TKA due to OA and a ...
Haley Horbaly
wiley   +1 more source

Impact of Cleft lip and Palate on Mother-to-Infant Bonding: a Cross-Sectional Study in the Japan Environment and Children's Study

, 2019
Shinobu Tsuchiya, Masahiro Tsuchiya, Haruki Momma, Takeyoshi Koseki, Kaoru Igarashi, Ryoichi Nagatomi, Takahiro Arima, Nobuo Yaegashi   +7 more
openalex   +1 more source