Results 121 to 130 of about 77,845 (358)

OPERATION FOR STRICTURE. [PDF]

The Lancet
n ...
openaire   +2 more sources

Evaluation of the Efficacy and Safety of Laser versus Cold Knife Urethrotomy in the Management of Patients with Urethral Strictures: A Systematic Review and Meta-Analysis of Randomized Clinical Trials [PDF]

, 2017
Lynda Torres Castellanos, María Camila Moreno Bencardino, Alejandra Bravo‐Balado, Carlos Andrés García Mayorga, Isis Vargas Manrique, Nicolás Fernández   +5 more
openalex   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Localization of post-NEC strictures.

, 2013
Localization of post-NEC strictures.
Caroline Farnoux (469664), Aurélie Gaudin (469663), Laure Maury (469666), Valérie Biran (259556), Arnaud Bonnard (35748), Olivier Baud (112799), Marianne Alison (469665)   +6 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Observations on the treatment of stricture of the urethra by the “ stricture dilator.” [PDF]

Dublin Quarterly Journal of Medical Science
n ...
openaire   +2 more sources

Fracture of Self-Expandable Metal Stent during Endoscopic Removal in Benign Biliary Stricture [PDF]

, 2013
Kyu Re Joo, Chang Nyol Paik, Woo Chul Chung, Kang‐Moon Lee, Jin Mo Yang   +4 more
openalex   +1 more source

Souttar tube for malignant stricture of the oesophagus [PDF]

, 2020
TW Wong
openalex   +1 more source

Correction to: Tissue Transfer Techniques in the Management of Urethral Stricture Disease: Flaps and Grafts [PDF]

, 2021
Joel Gelman, J. R. Furr
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source