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Ruth McGowan
225  results:
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1

SEC31A may be associated with pituitary hormone deficiency ..:

Tobias, Edward S. ; Lucas-Herald, Angela K. ; Sagar, Danielle...
Endocrine.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Outcomes of patients with Juvenile Polyposis-Hereditary Hae..:

Pearson, Madeline ; McGowan, Ruth ; Greene, Philip...
European Journal of Human Genetics.  32 (2024)  6 - p. 731-735 , 2024
Link: https://doi.org/10.1038/..
 
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3

Expanding the phenotypic spectrum of Chromosome 16p13.11 mi..:

Hamad, Asma ; Sherlaw-Sturrock, Charlotte A. ; Glover, Kate...
European Journal of Medical Genetics.  66 (2023)  4 - p. 104714 , 2023
Link: https://doi.org/10.1016/..
 
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4

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine.  25 (2023)  11 - p. 100962 , 2023
Link: https://doi.org/10.1016/..
 
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5

Gonadal Function in Boys with Bilateral Undescended Testes:

Lucas-Herald, Angela K ; Alkanhal, Khalid I ; Caney, Emma...
Journal of the Endocrine Society.  8 (2023)  2 - p. , 2023
Link: https://doi.org/10.1210/..
 
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6

Diagnostic pitfalls in a young adult with new diabetes:

Below, Natalie ; Morrison, Deborah ; McGowan, Ruth.
Endocrinology, Diabetes & Metabolism Case Reports.  2023 (2023)  4 - p. , 2023
Link: https://doi.org/10.1530/..
 
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7

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, U..:

Patjamontri, Supitcha ; Lucas-Herald, Angela K. ; McMillan, Martin...
Hormone Research in Paediatrics.  , 2023
Link: https://doi.org/10.1159/..
 
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8

Clinical and Genetic Evaluation of People with or at Risk o..:

Gillmore, Julian D. ; Reilly, Mary M. ; Coats, Caroline J....
Advances in Therapy.  39 (2022)  6 - p. 2292-2301 , 2022
Link: https://doi.org/10.1007/..
 
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9

The genetic diagnosis of rare endocrine disorders of sex de..:

Persani, Luca ; Cools, Martine ; Ioakim, Stamatina...
Endocrine Connections.  11 (2022)  12 - p. , 2022
Link: https://doi.org/10.1530/..
 
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10

The Use of Genetics for Reaching a Diagnosis in XY DSD:

Ahmed, S. Faisal ; Alimusina, Malika ; Batista, Rafael L....
Sexual Development.  16 (2022)  2-3 - p. 207-224 , 2022
Link: https://doi.org/10.1159/..
 
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11

Genome sequencing with gene panel-based analysis for rare i..:

Hocking, Lynne J. ; Andrews, Claire ; Armstrong, Christine...
European Journal of Human Genetics.  31 (2022)  2 - p. 231-238 , 2022
Link: https://doi.org/10.1038/..
 
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12

PMON312 A De Novo Heterozygous Nonsense Variant In The SEC3..:

Greenfield, Andy ; Herzyk, Pawel ; Lucas-Herald, Angela K...
Journal of the Endocrine Society.  6 (2022)  Supplement_1 - p. A623-A624 , 2022
Link: https://doi.org/10.1210/..
 
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13

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine.  24 (2022)  10 - p. 2051-2064 , 2022
Link: https://doi.org/10.1016/..
 
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14

A Nationwide Study of the Prevalence and Initial Management..:

Rodie, Martina E. ; Ali, Salma R. ; Jayasena, Arundathi...
Sexual Development.  16 (2021)  1 - p. 11-18 , 2021
Link: https://doi.org/10.1159/..
 
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15

Clinical presentation and long‐term outcomes of infantile h..:

Norrish, Gabrielle ; Kolt, Gali ; Cervi, Elena...
ESC Heart Failure.  8 (2021)  6 - p. 5057-5067 , 2021
Link: https://doi.org/10.1002/..
 
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