Results 161 to 170 of about 2,214,382 (367)

Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities. [PDF]

Facts Views Vis Obgyn, 2022
Küçük T, Ata B.
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Congenital abnormalities of platelet membrane glycoproteins

Journal of Associated Medical Sciences, 2010
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Preeyanat Vongchan
doaj  

Discussion on the Significance of Congenital Abnormalities of the Lumbosacral Region

, 1950
J R ARMSTRONG, Fraser Golding, Henry J. Jackson, Helena Gillespie, B. J. Freedman, E Crisp, K. C. Kent Lloyd   +6 more
openalex   +1 more source

Discussion on Common Congenital Abnormalities and Their Management in General Practice [PDF]

, 1957
Lucy Batten, G Mitchell-Heggs, D N MATTHEWS   +2 more
openalex   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +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

Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections. [PDF]

Heliyon, 2021
Hananeh WM, Al-Natour MQ, Alaboudi AR, Abo-Shehada MN, Bani Ismail ZA.   +4 more
europepmc   +1 more source

Congenital Syphilis. A Follow-up Study with Reference to Mental Abnormalities. B. Hallgren e E. Holsström [PDF]

, 1955
Homero Vallada
openalex   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source