Results 201 to 210 of about 99,315 (292)

Pointing Tuberculous Empyema and Tuberculous Rib [PDF]

, 1927
W. M. Feldman
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

When CuCl₄ ^2- and CuBr₄ ^2- Form Anion···Anion Networks Assembled via Cu···Cl/Br Regium Bonds. [PDF]

Cryst Growth Des
Lo Iacono C, Pizzi A, Mahmudov KT, Gomila RM, Frontera A, Resnati G.   +5 more
europepmc   +1 more source

Some Account of a Case in Which the Left Femur and the Fifth Rib on the Right Side Were Fractured in Consequence of Disease, the Bladder Being at the Same Time in the State of Carcinomatous Ulceration, with Observations [PDF]

Samuel Lewis Cooper
openalex   +1 more source

Deformity of Right Shoulder, with Associated Deformities of Ribs and Cervical Spine [PDF]

, 1927
W.E. Tanner
openalex   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Multidisciplinary en-bloc resection and concurrent chest wall reconstruction for a massive rib Ewing sarcoma in a child: A case report. [PDF]

Int J Surg Case Rep
Toumi A, Mosbahi S, Belhassen S, Taieb C, Mahdhi N, Sahnoun L.   +5 more
europepmc   +1 more source

Caries of the 5th and 6th Ribs, Disorganization of the Right Lobe of the Lungs, with Description of an Operation [PDF]

Milton Antony
openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source