Results 91 to 100 of about 1,610 (176)

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing. [PDF]

BMC Pediatr
Jo HY, Kim YM, Kim H, Cho YJ, Cheon CK.
europepmc   +1 more source

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. [PDF]

Cell Rep Methods
Petrazzini BO, Balick DJ, Forrest IS, Cho J, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases [PDF]

J Clin Res Pediatr Endocrinol
Akyüz A, Atalar H, Çilesiz K, İnci A, Okur İ, Tümer L, Ezgü F.   +6 more
europepmc   +1 more source

Osteochondrodysplasia

, 2013
openaire   +1 more source

A novel homozygous <i>TREM2</i> c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review. [PDF]

J Int Med Res
Liu Q, Lin RR, Gao PR, Chen DF, Li HL.
europepmc   +1 more source

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant. [PDF]

Front Endocrinol (Lausanne)
Lizcano F, Avilés E, López C, Maradei-Anaya S, Ballesteros-García MC, Bustamante L, Luna F, O'Meara M, Valenzuela A.   +8 more
europepmc   +1 more source

Complex lethal osteochondrodysplasia [PDF]

, 2020
openaire   +1 more source

Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital. [PDF]

Cureus
Manzoor U, Saad M, Ali S, Bano S, Shahzad U, Zain M.   +5 more
europepmc   +1 more source

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant. [PDF]

Calcif Tissue Int
Juul TM, Thomsen LK, Andreasen CM, Ejersted C, Folkestad L, Brusgaard K, Hansen S, Thomsen JS, Andersen TL, Frederiksen AL.   +9 more
europepmc   +1 more source