Results 91 to 100 of about 22,844 (195)

Dual Targeted Therapy with Baricitinib and Anifrolumab in Infantile Spondyloenchondrodysplasia with Immune Dysregulation. [PDF]

J Clin Immunol
Pandurangi S, Soucy N, Moreda CM, Singh V, Wysocki CA.   +4 more
europepmc   +1 more source

Case Report: Novel mutations in two patients with <i>MED13L</i>-related intellectual disability highlighting the importance of genetic counseling. [PDF]

Front Genet
Cao H, He T, Wang J, Zhou C, Wei X, Zhang X.   +5 more
europepmc   +1 more source

Genotyping strategies for single-step genomic predictions in a simulated sheep population under different scenarios of pedigree error types. [PDF]

Front Genet
Rocha AO, Gloria LS, Araujo AC, Wen H, Wilson CS, Freking BA, Murphy TW, Burke JM, Lewis RM, Brito LF.   +9 more
europepmc   +1 more source

(a) Pedigree of patient OS1 and (b) the MLPA result showing the CNV ratio chart in the STK11 gene.

Rania Abdelmaksoud-Dammak (21594091), Nihel Ammous-Boukhris (10315721), Amena Saadallah-Kallel (21594094), Dorra Ben Ayed-Guerfali (21594097), Souhir Guidara (21594100), Imen Miladi-Abdennadher (21594103), Ikhlas Ben Ayed (11313377), Hassen Kamoun (21594106), Slim Charfi (7856843), Tahya Sellami-Boudawara (21594109), Imen Zribi (19801896), Foued Frikha (21594112), Salah Boujelbene (21594115), Raja Mokdad-Gargouri (11442455)   +13 more
openalex   +1 more source

Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and <i>CEL</i> gene mutations: A case report. [PDF]

World J Diabetes
Che XD, Wei ZL, Gong W, Qin L, Liu S, Jin YH, Wang HY.   +6 more
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

10 tips on how to take a proper family history in CKD patient care. [PDF]

Clin Kidney J
Cornec-Le Gall E, van Eerde AM, Figueres L, Simons M, Capasso G, Perez Gomez MV, Nijenhuis T, Sayer JA, Zagorec N, Müller RU, Halbritter J.   +10 more
europepmc   +1 more source

The McMannis Family Pedigree Chart

, 2016
Jeremy W McMannis
openalex   +1 more source

Rittinghaus [PDF]

, 2013
Kuß, Erich
core   +1 more source

A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review. [PDF]

Front Pediatr
Zhang W, Hou LM, Cheng X.
europepmc   +1 more source