Results 191 to 200 of about 240,402 (354)

Cervical ribs in Pakistan: an under-recognized anatomical anomaly. [PDF]

open access: yesAnn Med Surg (Lond)
Ur Rehman MU, Un Nisa N, Hotak R.
europepmc   +1 more source

Server cuts ribs at buffet table

open access: yes, 1975
Server cutting roasted ribs at a buffet table and customer serving himself.

core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Mid-Term Outcomes of Titanium Plate Reconstruction for Lung Cancer Requiring Chest Wall Resection. [PDF]

open access: yesInterdiscip Cardiovasc Thorac Surg
Kanzaki R   +5 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Perancangan komunikasi visual promosi 'The Prime Steak and Ribs' Surabaya

open access: yes, 2003
`The Prime Steak and Ribs` merupakan steak house yang mulai berdiri pada akhir tahun 2002. Saat ini, omzet penjualan dari `The Prime Steak and Ribs` sudah lumayan. Namun masih banyak yang harus ditingkatkan lagi demi kemajuan steak house ini.
Kurniawan, Lianto
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Synchronous chondrosarcoma originating from two distant ribs

open access: yes, 2019
A chondrosarcoma is a rare bone tumour derived from cartilage-producing malignant mesenchymal cells. A 25-year-old male patient was operated upon to treat a chondrosarcoma arising in the left 2nd and 6th ribs.
Kocaturk, Celalettin Ibrahim   +3 more
core  

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar   +3 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

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