Results 121 to 130 of about 199,511 (336)

Head Circumference and IQ in Duchenne MD

Pediatric Neurology Briefs, 1991
The head circumferences of 64 patients with Duchenne muscular dystrophy were greater than normal and the intellectual performance tested by the Wechsler was significantly impaired in a study performed at The Royal Liverpool Children’s Hospital, Alder Hey,
J Gordon Millichap
doaj   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Body weight and statistic vital of Texel sheep in Wonosobo District by giving the ramie hay as an additional woof [PDF]

, 2009
. Kuntjoro A, Sutarno, Astirin OP. 2009. Body weight and statistic vital of Texel sheep in Wonosobo District by giving the ramie hay as an additional woof. Nusantara Bioscience 1: 23-30.
KUNTJORO1, AGUS, OKID, PARAMA ASTIRIN, SUTARNO,   +2 more
core   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

The Legacy of the Tevatron in the Area of Accelerator Science

, 2013
For more than 25 years the Tevatron was the highest energy accelerator in the world, providing the first access to particle collisions beyond 1 TeV and achieving an ultimate performance a factor of four hundred beyond the original design goals.
Holmes, Stephen D., Shiltsev, Vladimir D.   +1 more
core   +1 more source

Measurements of Mid-arm Circumference(MAC) and Mid-arm Circumference/Head Circumference(MAC/HC) Ratio as Indices of Nutritional Status in Newborn Infants [PDF]

, 1994
Jae Jun Lee, Kyung Ah Lee, Young Hwan Lee, Son Moon Shin   +3 more
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Emergent velocity agreement in robot networks [PDF]

, 2011
In this paper we propose and prove correct a new self-stabilizing velocity agreement (flocking) algorithm for oblivious and asynchronous robot networks. Our algorithm allows a flock of uniform robots to follow a flock head emergent during the computation
Canepa, Davide, Défago, Xavier, Izumi, Taisuke, Potop-Butucaru, Maria   +3 more
core   +3 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source