Results 101 to 110 of about 8,553 (167)

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +1 more source

The evolving genetic landscape of neuromuscular fetal akinesias. [PDF]

J Neuromuscul Dis
Haliloğlu G, Ravenscroft G.
europepmc   +1 more source

Body stalk anomalies and their relationship to amniotic band disruption complex in six cats. [PDF]

J Feline Med Surg
Martín-Alguacil N, Cozar JM, Avedillo L.   +2 more
europepmc   +1 more source

LRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle. [PDF]

Anim Genet
Jacinto J, Gearing J, Capitan A, Zorlescu AM, Otter A, Drögemüller C.   +5 more
europepmc   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +1 more source

Prenatal Ultrasound Evaluation of Congenital Hand Anomalies: Toward a Standardized Approach. [PDF]

J Med Ultrasound
Simeonova-Brachot II.
europepmc   +1 more source

Long Head of the Triceps Transfer to the Proximal Ulna for Active Elbow Flexion in Arthrogryposis. [PDF]

J Pediatr Soc North Am
Nulty SA, Van Heest A, Georgiadis AG.
europepmc   +1 more source

Arthrogryposis.

Canadian journal of surgery. Journal canadien de chirurgie, 1968
openaire   +1 more source

Biallelic <i>CRELD1</i> variants cause severe muscle weakness and infantile epilepsy. [PDF]

Brain Commun
D'Alessandro M, Bamborschke D, Bülow MH, Özdemir Ö, Daimagüler HS, Brümmer V, Kucharowski N, Sellin J, Brunn A, Deckert M, Wunderlich G, Koerber F, Bessereau JL, Cirak S.   +13 more
europepmc   +1 more source

Arthrogryposis Multiplex Congenita Discovered at Birth: A Case Report. [PDF]

Cureus
Yechouti C, Asbik O, Ayyad A, Messaoudi S, Amrani R.   +4 more
europepmc   +1 more source